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LOVD - Variant listings for RB1

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+/? - c.2106+1del Deletion 20_in - - - splice RB1_01990 germline fam-no_20090128 retinoblastoma germline blood DNA unknown isolated Dommering et al. 2014, Germany:Essen 1 published No RNA available Predicted: alters the donor splice site of exon 20, leading to a skip of exon 20
?/? g.156839G>C c.2106+1G>C Substitution 20_in splice - - splice RB1_01742 somatic ng_un_is_tu_385 unilateral rb somatic tumor DNA - isolated not reported - Diana Rushlow, Gallie:Toronto 1 unpublished -
?/? g.156840T>C c.2106+2T>C substitution 20_in altered splicing - - splice RB1_01248 - 15 bilateral rb germline blood DNA - familial Sampieri et al. (2006) J Hum Genet 51: 209 1 published -
?/? g.49033971T>C c.2106+2T>C substitution 20_in r.2073_2106del p.(Tyr692Leufs*2) - splice RB1_01248 germline #15 bilateral rb - blood DNA - isolated Italy:Siena 1 published Disruption of pocket B domain and C-termus loss; mosaicism
?/? g.156840T>G c.2106+2T>G Substitution 20_in altered splicing - - unknown RB1_01791 somatic ge_is_uni_38 unilateral rb somatic tumor DNA - isolated not reported - Diana Rushlow, Gallie:Toronto 1 unpublished 2nd mut in tumor
?/? g.156840T>G c.2106+2T>G Substitution 20_in altered splicing - - unknown RB1_01791 somatic Supp_Tab_Mt-91 - - nd DNA - - Price et al., 2013 1 published -
?/? g.156840_156843del c.2106+2_2106+5del deletion 20_in altered splicing - - splice RB1_00509 - not provided bilateral rb germline blood DNA - - Houdayer et al. (2004) Hum Mutat 23(2): 193-202. 1 published -
?/? g.15689insTTCT c.2106+53_2106+54insTTCT insertion 20_in - variant - variant RB1_01117 - not provided no cancer - nd DNA - - dbSNP 1 published -
?/? g.156893insT c.2106+55_2106+56insT insertion 20_in - variant - variant RB1_01118 - not provided no cancer - nd DNA - - dbSNP 1 published -
?/? g.156957insCTT c.2106+119_2106+120insCTT insertion 20_in - variant - variant RB1_01119 - not provided no cancer - nd DNA - - dbSNP 1 published -
?/? g.156967insT c.2106+129_2106+130insT insertion 20_in - variant - variant RB1_01120 - not provided no cancer - nd DNA - - dbSNP 1 published -
?/? g.156974C>T c.2106+136C>T substitution 20_in - variant - variant RB1_01121 - not provided no cancer - nd DNA - - dbSNP 1 published -
?/? g.156984insCTTTTT c.2106+146_2106+147insCTTTTT insertion 20_in - variant - variant RB1_01122 - not provided no cancer - nd DNA - - dbSNP 1 published -
?/? g.157023A>G 2106+185A>G substitution 20_in - variant - variant RB1_01123 - not provided no cancer - nd DNA - - dbSNP 1 published -
?/? g.160714T>G c.2107-16T>G substitution 20_in altered splicing - - splice new acceptor RB1_00913 - Fam764 bilateral rb germline nd DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/? g.160727T>G c.2107-3T>G substitution 20_in altered splicing - - splice RB1_00730 germline E3911 - germline nd DNA - not reported Lohmann - Essen 1 unpublished -
?/? g.160728A>G c.2107-2A>G substitution 20_in altered splicing - - splice RB1_00009 - not provided - - SCLC cell line DNA - - Horowitz et al., 1990 1 published -
?/? g.160728A>G c.2107-2A>G substitution 20_in altered splicing - - splice RB1_00009 - J82 other tumor somatic urothel ca DNA - - Yandell et al., 1989 1 published -
?/? g.160728A>G c.2107-2A>G substitution 20_in altered splicing - - splice RB1_00009 - not provided bilateral rb germline blood DNA - isolated Nichols et al. (2005) Hum Mutat 25(6): 566-74. 1 published -
?/? g.160728A>G c.2107-2A>G substitution 20_in altered splicing - - splice RB1_00009 - not provided other cancer - bladder carcinoma cells DNA - - Horowitz et al. (1989) Science 243: 937 1 published bladder carcinoma
?/? g.160729G>A c.2107-1G>A substitution 20_in altered splicing - - splice RB1_00424 - E2922T unilateral rb somatic retinoblastoma DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/? g.160729G>A c.2107-1G>A substitution 20_in altered splicing - - splice RB1_00424 - R18 bilateral rb somatic retinoblastoma DNA - isolated Bamme et al. (2005) Genet Test. 3 (9):200-211 1 published -
?/? g.160729G>A c.2107-1G>A substitution 20_in altered splicing - - splice RB1_00424 somatic 17763 other cancer somatic tumor DNA - - COSMIC - COSM49011 1 published -
?/? g.160729G>C c.2107-1G>C Substitution 20_in splice_acceptor - - splice RB1_01900 unknown Supp_Tab_Mt-92 - - nd DNA - - Price et al., 2013 1 published -
?/? g.160663_160748delinsC c.2107_2192delinsC Insertion/Deletion 20_in - p.(Ile703Leufs*13) - frameshift RB1_02085 germline P_20140723_411 bilateral rb germline blood DNA unknown isolated Houdayer - Paris 1 unpublished -
?/? g.160712_160790del c.2107-18_2167del Deletion 21_ex - - - unknown RB1_01689 germline ge_uni_iso_tu59 unilateral rb germline blood DNA - isolated not reported - Diana Rushlow, Gallie:Toronto 1 unpublished -
?/? g.160730_160833del c.2107_2211del Deletion 21_ex - p.Ile703_Glu737del - unknown RB1_01849 somatic DU-145 other cancer somatic tumor DNA - - COSMIC - COSM904 1 published -
?/? g.160730_160833del c.2107_2211del Deletion 21_ex - p.Ile703_Glu737del - unknown RB1_01849 somatic S82826 other cancer somatic tumor DNA - - COSMIC - COSM904 1 published -
?/? g.160731T>C c.2108T>C substitution 21_ex - p.Ile703Thr - missense RB1_00843 - Fam515 bilateral rb germline nd DNA - - Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/? g.160732t>T c.2109t>T substitution 21_ex - - - - RB1_00901 - Fam643 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/? g.160733A>G c.2110A>G substitution 21_ex - p.Met704Val - - RB1_01374 - OVCAR-3 other cancer - ovarian carcinoma cell li DNA heterozygous - Yaginuma et al, M Exp Cell Res. 1997 1 published ovarian cancer
?/+ g.160733_160734del c.2110_2111del deletion 21_ex - - - frameshift RB1_00466 somatic E3443 unilateral rb somatic retinoblastoma DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/? g.160734T>G c.2111T>G substitution 21_ex - p.Met704Arg - missense RB1_00406 - not provided bilateral rb germline blood DNA - isolated Scheffer et al. (2000) J Med Genet 37:E6 1 published -
?/? g.160734T>G c.2111T>G substitution 21_ex - p.Met704Arg - missense RB1_00406 - HKR4989 bilateral rb germline blood DNA - familial Anthony Raizis 1 - Detected in 12 y old New Zealand Maori, de novo in patient, Mut. absent in both parents and siblings
?/+ g.160736del c.2113del deletion 21_ex - p.Met705Cysfs*10 - frameshift RB1_00558 unknown not provided bilateral rb germline blood DNA - isolated Nichols et al. (2005) Hum Mutat 25(6): 566-74. 1 published -
+?/? - c.2113_2115delATG Deletion 21 - p.Met705del Met705del in-frame RB1_01430 - 10011331 bilateral rb germline Peripheral blood DNA - unknown United Kingdom (Great Britain):Manchester 1 unpublished -
?/? g.160739_160741dup c.2116_2118dup insertion 21_ex - p.Cys706dup - in-frame RB1_00344 - not provided unilateral rb germline nd DNA heterozygous familial Lohmann - Essen 1 unpublished -
?/? g.160739_160741dup c.2116_2118dup
    + c.1654C>T		 insertion 21_ex - p.Cys706dup - in-frame RB1_00344 germline E2337 unilateral rb germline tumor DNA heterozygous isolated Germany:Essen 1 - -
?/? g.160739_160751del c.2116_2128del Deletion 21_ex - p.(Cys706Alafs*5) - frameshift RB1_02086 germline P_20140723_405 bilateral rb germline blood DNA unknown isolated Houdayer - Paris 1 unpublished -
?/? g.160739_160751del13 c.2116_2128del13 Deletion 21_ex - p.(Cys706Alafs*5) - frameshift RB1_01901 unknown Supp_Tab_Mt-93 - - nd DNA - - Price et al., 2013 1 published -
?/? g.160740G>A c.2117G>A substitution 21_ex - p.Cys706Tyr - missense RB1_00159 - RB210 bilateral rb germline blood DNA - isolated Kato et al., 1994 1 published -
?/? g.160740G>A c.2117G>A substitution 21_ex - p.Cys706Tyr - missense RB1_00159 - not provided unilateral rb somatic retinoblastoma DNA - isolated Nichols et al. (2005) Hum Mutat 25(6): 566-74. 1 published -
?/? g.160740G>T c.2117G>T substitution 21_ex - p.Cys706Phe - - RB1_01272 - NCI-H209 small-cell lung cancer - SCLC cell line DNA - - Kaye et al. (1990) Proc Natl Acad Sci U S A 87: 6922 1 published -
?/? g.160740G>T c.2117G>T substitution 21_ex - p.Cys706Phe - unknown RB1_01272 somatic H209 other cancer somatic nd DNA - - COSM883, Bignon et al.1990;1;647-51 1 published probably damaging / deleterious
?/+ g.160741T>A c.2118T>A substitution 21_ex - p.Cys706X - nonsense RB1_01364 - RB-39 bilateral rb germline blood DNA - isolated - 1 published -
?/+ g.160741_160753del c.2118_2130del deletion 21_ex - - - frameshift RB1_00844 - Fam733 bilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/? g.160742delT c.2119delT Deletion 21_ex - - - frameshift RB1_01646 germline bilateral_420 bilateral rb germline blood DNA - familial not reported - Diana Rushlow, Gallie:Toronto 1 unpublished -
+/+ g.160742T>C c.2119T>C Substitution 21_ex - p.Ser707Pro Ser707Pro missense RB1_01432 germline E4487 bilateral rb germline blood DNA unknown isolated Lohmann, Germany:Essen 1 unpublished -
?/? g.160746T>A c.2123T>A substitution 21_ex - p.Met708Lys - missense RB1_00975 - Fam15 bilateral rb germline nd DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/? g.160746T>G c.2123T>G Substitution 21_ex - p.Met708Arg - unknown RB1_01647 germline bilateral_421 bilateral rb germline blood DNA - familial not reported - Diana Rushlow, Gallie:Toronto 1 unpublished -
?/? g.160748_160751delins11 c.2125_2128delins11 Other/Complex 21_ex - - - frameshift RB1_01933 unknown Supp_Tab_Mt-94 - - nd DNA - - Price et al., 2013 1 published -
?/+ g.160749_160760delins6 c.2126_2137delins6 complex 21_ex - - - frameshift RB1_00557 - not provided bilateral rb germline blood DNA - isolated Nichols et al. (2005) Hum Mutat 25(6): 566-74. 1 published -
?/+ g.160750T>G c.2127T>G substitution 21_ex - p.Tyr709X - nonsense RB1_00454 - not provided bilateral rb germline blood DNA - - Houdayer et al. (2004) Hum Mutat 23(2): 193-202. 1 published -
?/+ g.160750T>G c.2127T>G substitution 21_ex - p.Tyr709X - nonsense RB1_00454 - E3356 bilateral rb germline nd DNA - isolated Lohmann - Essen 1 unpublished -
?/+ g.160750T>G c.2127T>G substitution 21_ex - p.Tyr709X - nonsense RB1_00454 - CO425 bilateral rb germline blood DNA - isolated Alonso et al. (2005) Hum Mutat 25: 99 1 published -
?/? g.160756_160803del c.2133_2180del Substitution 21_ex - p.Cys712_Ala727del - nonsense RB1_01812 somatic S83105 other cancer somatic tumor DNA - - COSMIC - COSM919 1 published -
?/? g.160757T>C c.2134T>C substitution 21_ex - p.Cys712Arg - missense RB1_00160 - G1483 bilateral rb germline blood DNA - isolated Yilmaz et al., 1998 1 published -
?/? g.160757T>C c.2134T>C substitution 21_ex - p.Cys712Arg - missense RB1_00160 - family H rb germline blood DNA not reported familial lp Cowell et al., 1998 1 published -
?/? g.160757T>C c.2134T>C substitution 21_ex - p.Cys712Arg - missense RB1_00160 - Fam67 unilateral rb germline nd DNA - familial Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/? g.160757T>C c.2134T>C substitution 21_ex - p.Cys712Arg - missense RB1_00160 - 5 bilateral rb germline blood DNA - isolated Jakubowska,et al. (2001) Hum Mutat 18(5): 459. 1 published -
?/? g.160757T>C c.2134T>C substitution 21_ex - p.Cys712Arg - missense RB1_00160 - 002-URB unilateral rb germline blood DNA - - Nichols et al. (2005) Hum Mutat 25(6): 566-74. 1 published -
?/? g.160757T>C c.2134T>C substitution 21_ex - p.Cys712Arg - missense RB1_00160 - not provided bilateral rb germline nd DNA hemi/homozygous isolated Lohmann - Essen 1 unpublished -
?/? g.160757T>C c.2134T>C substitution 21_ex - p.Cys712Arg - missense RB1_00160 - not provided - germline nd DNA - familial Lohmann - Essen 1 unpublished -
?/? g.160757T>C c.2134T>C substitution 21_ex - p.Cys712Arg - missense RB1_00160 - Fam666 bilateral rb germline nd DNA - familial not reported, BL Gallie - Toronto 1 unpublished -
?/? g.160757T>C c.2134T>C substitution 21_ex - - - unknown RB1_00946 germline Fam955 unilateral rb germline nd DNA - possibly familial not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.160762del c.2139del deletion 21_ex - p.(Val714*) - frameshift RB1_00508 unknown not provided bilateral rb germline blood DNA - - Houdayer et al. (2004) Hum Mutat 23(2): 193-202. 1 published -
?/? g.160762dupA c.2139dupA Duplication 21_ex - - - frameshift RB1_01648 germline bilateral_424 bilateral rb germline blood DNA - familial not reported - Diana Rushlow, Gallie:Toronto 1 unpublished -
?/+ g.160766A>T c.2143A>T substitution 21_ex - p.Lys715X - nonsense RB1_00161 - Nidp other tumor somatic ProstateCa DNA - - Bookstein et al., 1990 1 published -
?/+ g.160766A>T c.2143A>T substitution 21_ex - p.Lys715X - nonsense RB1_00161 - not provided unilateral rb somatic retinoblastoma DNA - - Babenko et al. (2002) Mol Biol (Mosk). 36(4):623-9. 1 published -
?/+ g.160766A>T c.2143A>T substitution 21_ex - p.Lys715X - nonsense RB1_00161 - T39 unilateral rb - retinoblastoma DNA - isolated Babenko et al. (2002) Mol Biol (Mosk) 36: 777 1 published -
?/? g.160766A>T c.2143A>T substitution 21_ex - p.Lys715X - nonsense RB1_00161 somatic DU-145 other cancer somatic nd DNA - - COSMIC - COSM940 1 published -
?/+ g.160771dup c.2148dup insertion 21_ex - p.Ile717Tyrfs*4 - frameshift RB1_00162 unknown TS16 bilateral rb germline blood DNA not reported isolated Liu et al., 1995 1 published -
?/? g.160775G>A c.2152G>A substitution 21_ex - p.Asp718Asn - missense RB1_00522 - Rb8 unilateral rb germline blood DNA - - Choy et al. (2002) Hum Mutat 20(5): 408. 1 published -
?/? g.160777ins5 c.2154_2155ins5 insertion 21_ex - - - - RB1_00896 - Fam487 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.160781A>T c.2158A>T substitution 21_ex - p.Lys720X - nonsense RB1_00163 - E489T unilateral rb somatic retinoblastoma DNA - isolated Lohmann et al., 1997 1 published -
?/? g.160783_160784insT c.2162dup Insertion 21_ex - p.Lys722Glnfs*29 - frameshift RB1_01798 somatic S83100 other cancer somatic tumor DNA - unknown COSMIC - COSM920 1 published -
?/? g.160785_160803delins7 c.2162_2180delins7 Other/Complex 21_ex - - - nonsense RB1_01945 unknown Supp_Tab_Mt-95 - - nd DNA - - Price et al., 2013 1 published -
?/+ g.160787A>T c.2164A>T substitution 21_ex - p.Lys722X - nonsense RB1_00681 - Fam419 bilateral rb germline blood DNA - isolated Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
+/+ g.160790dup c.2167dup
    + c.1659_1660del		 Duplication 21_ex - p.(Ile723Asnfs*28) - nonsense RB1_02053 somatic E6413T unilateral rb somatic retinoblastoma DNA heterozygous isolated Lohmann, Germany:Essen 1 unpublished -
?/+ g.160791del c.2168del deletion 21_ex - p.Ile723Thrfs*3 - frameshift RB1_01235 unknown F2780 rb germline blood DNA - familial Taylor et al. (2007) Hum Mutat 28: 284 1 published -
?/+ g.160792_160813del c.2169_2190del deletion 21_ex - - - frameshift RB1_00591 - RB74 bilateral rb germline blood DNA - familial Kiran et al. (2003) Hum Mutat 22(4): 339. 1 published -
+?/? - c.2169_2444del Deletion 21-23 r.2169_2444del p.Ile724_Ile815del - in-frame RB1_01472 germline 11007564 unilateral rb germline Blood DNA, RNA heterozygous isolated United Kingdom (Great Britain):manchester 1 unpublished -
?/? g.160793del22 c.2170 Insertion/Deletion 21_ex - - - frameshift RB1_01503 germline Rb17 bilateral rb germline blood DNA - isolated Ata-ur-Rasheed et al. (2002) Ophthalmic Genet.(2):121-8. 1 published -
?/? g.160795_160805del c.2172_2182del Deletion 21_ex - p.(Val725Glnfs*22) - frameshift RB1_02087 unknown P_20140723_409 bilateral rb germline blood DNA unknown isolated Houdayer - Paris 1 unpublished -
?/+ g.160797del c.2174del deletion 21_ex - - - frameshift RB1_01236 - SR23T bilateral rb germline retinoblastoma DNA - isolated Kontic et al. (2006) J Hum Genet 51: 909 1 published -
?/? g.160798_160813del16 c.2175_2190del16 Deletion 21_ex - - - frameshift RB1_01734 somatic ng_un_is_tu_330 unilateral rb somatic tumor DNA - isolated not reported - Diana Rushlow, Gallie:Toronto 1 unpublished -
?/+ g.160799del c.2176del deletion 21_ex - p.Thr726Glnfs*18 - frameshift RB1_00164 unknown G367 bilateral rb germline inherited blood DNA - familial Lohmann et al., 1994 1 published -
?/+ g.160799del c.2176del deletion 21_ex - p.Thr726Glnfs*18 - frameshift RB1_00164 unknown 23 bilateral rb germline blood DNA - isolated Abouzeid et al. (2007) Mol Vis 13: 1740 1 published -
?/? g.160806A>G c.2183A>G Substitution 21_ex - p.Tyr728Cys - unknown RB1_01813 somatic Br019X other cancer somatic tumor DNA - - COSMIC - COSM40941 1 unpublished -
?/+ g.160807C>A c.2184C>A substitution 21_ex - p.Tyr728X - nonsense RB1_00165 - G382 bilateral rb germline blood DNA - isolated Lohmann et al., 1996 1 published -
+/? - c.2184C>G Substitution 21 - p.(Tyr728*) - nonsense RB1_02099 germline RB33 bilateral rb germline blood DNA - isolated Malaysia:Kuala Lumpur 1 published -
?/? g.160814delC c.2191del Substitution 21_ex - p.Leu731Phefs*13 - missense RB1_01779 germline #15 bilateral rb germline blood DNA - isolated Seo et al., 2012 1 published -
?/+ g.160815_160816del c.2193_2194del deletion 21_ex - p.Leu732Serfs*18 - frameshift RB1_00576 unknown 1u unilateral germline blood DNA - familial - 1 published -
?/+ g.160815_160816del c.2193_2194del deletion 21_ex - p.Leu732Serfs*18 - frameshift RB1_00576 unknown 1u rb germline nd DNA - familial JL Gala - Brussels 1 unpublished -
?/+ g.160817_160820del c.2194_2197del deletion 21_ex - - - frameshift RB1_00848 - Fam726 bilateral rb germline nd DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.160819del c.2196del deletion 21_ex - p.His733Metfs*11 - frameshift RB1_00166 unknown G385 bilateral rb germline blood DNA - familial Lohmann et al., 1994 1 published -
?/? g.160821A>G c.2198A>G substitution 21_ex - p.His733Arg - missense RB1_00474 - E3720 - germline nd DNA hemi/homozygous not reported Lohmann - Essen 1 unpublished -
?/? g.160821A>G c.2198A>G substitution 21_ex - p.His733Arg - missense RB1_00474 - Fam307 bilateral rb germline nd DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.160823dup c.2200dup insertion 21_ex - p.Ala734Glyfs*17 - frameshift RB1_00167 unknown G435 bilateral rb germline blood DNA - isolated Lohmann et al., 1994 1 published -
+/+ g.160829C>T c.2206C>T Substitution 21_ex - p.Gln736* - nonsense RB1_01762 somatic E5895 unilateral rb somatic retinoblastoma DNA hemi/homozygous isolated Lohmann, Germany:Essen 1 unpublished -
2801 - 2900
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Legend: [ RB1 full legend ]
Sequence variations are described basically as recommended by the Ad-Hoc Committee for Mutation Nomenclature (AHCMN), with the recently suggested additions (den Dunnen JT and Antonarakis SE [2000], Hum.Mut. 15:7-12); for a summary see Nomenclature. Coding DNA Reference Sequence, with the first base of the Met-codon counted as position 1.
Path.: Variant pathogenicity, in the format Reported/Concluded; '+' indicating the variant is pathogenic, '+?' probably pathogenic, '-' no known pathogenicity, '-?' probably no pathogenicity, '?' effect unknown. g-position: Variation at DNA level according to GenBank accession number L11910 (NCBI Genbank) cDNA change: Variation at DNA-level. If present, "Full Details" will show you the the full-length entry. Type: Type of variant at DNA level. Exon: Exon numbering. RNA change: Variation at RNA-level, (?) unknown but probably identical to DNA. Protein: Variation at protein level. RBWiki: RBWiki expected consequence type: expected consequence type at protein level, e.g. frameshift, missense RB1 DB-ID: Database IDentifier; When available, links to OMIM ID's are provided. originated_in: data on the cell of origin, either germline or somatic (mosaic mutations are of somatic origin) Patient ID: Internal reference to the patient. Phenotype: Disease phenotype, as reported in paper/by submitter, unless modified by the curator. Mut. origin: Origin of mutation Tissue: Tissue type the variant was detected in. Template: Variant detected in DNA, RNA and/or Protein. tumor-genotype: Genotype of the tumor cells family history: Occurrence of the tumor in the family Reference: Reference describing the variation, "Submitted:" indicating that the mutation was submitted directly to this database. # Reported: Number of times this case has been reported Published: Patient data is published in a paper

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