NCOA6 c.514+1221C>T

Variant ID: 20-33355046-G-A

NM_014071.3(NCOA6):c.514+1221C>T

This variant was identified in 28 publications

View GRCh38 version.




Publications:


Birthweight, BMI in adulthood and latent autoimmune diabetes in adults: a Mendelian randomisation study.

Diabetologia
Wei, Yuxia Y; Zhan, Yiqiang Y; Löfvenborg, Josefin E JE; Tuomi, Tiinamaija T; Carlsson, Sofia S
Publication Date: 2022-09

Variant appearance in text: rs4911442
PubMed Link: 35606578
Variant Present in the following documents:
  • 125_2022_5725_MOESM1_ESM.pdf
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Association of Melanoma-Risk Variants with Primary Melanoma Tumor Prognostic Characteristics and Melanoma-Specific Survival in the GEM Study.

Current Oncology (Toronto, Ont.)
Davari, Danielle R DR; Orlow, Irene I; Kanetsky, Peter A PA; Luo, Li L; Busam, Klaus J KJ; Sharma, Ajay A; Kricker, Anne A; Cust, Anne E AE; Anton-Culver, Hoda H; Gruber, Stephen B SB; Gallagher, Richard P RP; Zanetti, Roberto R; Rosso, Stefano S; Sacchetto, Lidia L; Dwyer, Terence T; Gibbs, David C DC; Ollila, David W DW; Begg, Colin B CB; Berwick, Marianne M; Thomas, Nancy E NE
Publication Date: 2021-11-16

Variant appearance in text: rs4911442
PubMed Link: 34898573
Variant Present in the following documents:
  • Main text
  • curroncol-28-00401.pdf
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Association of Melanoma-Risk Variants with Primary Melanoma Tumor Prognostic Characteristics and Melanoma-Specific Survival in the GEM Study.

Current Oncology (Toronto, Ont.)
Davari, Danielle R DR; Orlow, Irene I; Kanetsky, Peter A PA; Luo, Li L; Busam, Klaus J KJ; Sharma, Ajay A; Kricker, Anne A; Cust, Anne E AE; Anton-Culver, Hoda H; Gruber, Stephen B SB; Gallagher, Richard P RP; Zanetti, Roberto R; Rosso, Stefano S; Sacchetto, Lidia L; Dwyer, Terence T; Gibbs, David C DC; Ollila, David W DW; Begg, Colin B CB; Berwick, Marianne M; Thomas, Nancy E NE
Publication Date: 2021-11-16

Variant appearance in text: rs4911442
PubMed Link: 34898573
Variant Present in the following documents:
  • Main text
  • curroncol-28-00401.pdf
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Exploring the possibility of predicting human head hair greying from DNA using whole-exome and targeted NGS data.

Bmc Genomics
Pośpiech, Ewelina E; Kukla-Bartoszek, Magdalena M; Karłowska-Pik, Joanna J; Zieliński, Piotr P; Woźniak, Anna A; Boroń, Michał M; Dąbrowski, Michał M; Zubańska, Magdalena M; Jarosz, Agata A; Grzybowski, Tomasz T; Płoski, Rafał R; Spólnicka, Magdalena M; Branicki, Wojciech W
Publication Date: 2020-08-05

Variant appearance in text: rs4911442
PubMed Link: 32758128
Variant Present in the following documents:
  • 12864_2020_6926_MOESM1_ESM.pdf
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Inherited Melanoma Risk Variants Associated with Histopathologically Amelanotic Melanoma.

The Journal Of Investigative Dermatology
Gibbs, David Corley DC; Orlow, Irene I; Vernali, Steven S; Powell, Helen B HB; Kanetsky, Peter A PA; Luo, Li L; Busam, Klaus J KJ; Sharma, Ajay A; Kricker, Anne A; Armstrong, Bruce K BK; Cust, Anne E AE; Anton-Culver, Hoda H; Gruber, Stephen B SB; Gallagher, Richard P RP; Zanetti, Roberto R; Rosso, Stefano S; Sacchetto, Lidia L; Dwyer, Terence T; Ollila, David W DW; Begg, Colin B CB; Berwick, Marianne M; Thomas, Nancy E NE; ,
Publication Date: 2020-04

Variant appearance in text: rs4911442
PubMed Link: 31568773
Variant Present in the following documents:
  • Main text
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Genome-wide study of hair colour in UK Biobank explains most of the SNP heritability.

Nature Communications
Morgan, Michael D MD; Pairo-Castineira, Erola E; Rawlik, Konrad K; Canela-Xandri, Oriol O; Rees, Jonathan J; Sims, David D; Tenesa, Albert A; Jackson, Ian J IJ
Publication Date: 2018-12-10

Variant appearance in text: rs4911442
PubMed Link: 30531825
Variant Present in the following documents:
  • 41467_2018_7691_MOESM2_ESM.pdf
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Clinical and Biological Characterization of Skin Pigmentation Diversity and Its Consequences on UV Impact.

International Journal Of Molecular Sciences
Del Bino, Sandra S; Duval, Christine C; Bernerd, Françoise F
Publication Date: 2018-09-08

Variant appearance in text: rs4911442
PubMed Link: 30205563
Variant Present in the following documents:
  • Main text
  • ijms-19-02668.pdf
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Inherited Genetic Variants Associated with Melanoma BRAF/NRAS Subtypes.

The Journal Of Investigative Dermatology
Thomas, Nancy E NE; Edmiston, Sharon N SN; Orlow, Irene I; Kanetsky, Peter A PA; Luo, Li L; Gibbs, David C DC; Parrish, Eloise A EA; Hao, Honglin H; Busam, Klaus J KJ; Armstrong, Bruce K BK; Kricker, Anne A; Cust, Anne E AE; Anton-Culver, Hoda H; Gruber, Stephen B SB; Gallagher, Richard P RP; Zanetti, Roberto R; Rosso, Stefano S; Sacchetto, Lidia L; Dwyer, Terence T; Ollila, David W DW; Begg, Colin B CB; Berwick, Marianne M; Conway, Kathleen K; ,
Publication Date: 2018-11

Variant appearance in text: rs4911442
PubMed Link: 29753029
Variant Present in the following documents:
  • Main text
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A GWAS in uveal melanoma identifies risk polymorphisms in the CLPTM1L locus.

Npj Genomic Medicine
Mobuchon, Lenha L; Battistella, Aude A; Bardel, Claire C; Scelo, Ghislaine G; Renoud, Alexia A; Houy, Alexandre A; Cassoux, Nathalie N; Milder, Maud M; Cancel-Tassin, Géraldine G; Cussenot, Olivier O; Delattre, Olivier O; Besse, Céline C; Boland, Anne A; Deleuze, Jean-François JF; Cox, David G DG; Stern, Marc-Henri MH
Publication Date: 2017

Variant appearance in text: rs4911442
PubMed Link: 28781888
Variant Present in the following documents:
  • Main text
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Adaptation of human skin color in various populations.

Hereditas
Deng, Lian L; Xu, Shuhua S
Publication Date: 2018

Variant appearance in text: rs4911442
PubMed Link: 28701907
Variant Present in the following documents:
  • Main text
  • 41065_2017_Article_36.pdf
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Impact of polymorphisms in microRNA biogenesis genes on colon cancer risk and microRNA expression levels: a population-based, case-control study.

Bmc Medical Genomics
Mullany, Lila E LE; Herrick, Jennifer S JS; Wolff, Roger K RK; Buas, Matthew F MF; Slattery, Martha L ML
Publication Date: 2016-04-23

Variant appearance in text: rs4911442
PubMed Link: 27107574
Variant Present in the following documents:
  • Main text
  • 12920_2016_Article_181.pdf
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Identification of Susceptibility Loci for Cutaneous Squamous Cell Carcinoma.

The Journal Of Investigative Dermatology
Asgari, Maryam M MM; Wang, Wei W; Ioannidis, Nilah M NM; Itnyre, Jacqueline J; Hoffmann, Thomas T; Jorgenson, Eric E; Whittemore, Alice S AS
Publication Date: 2016-05

Variant appearance in text: rs4911442
PubMed Link: 26829030
Variant Present in the following documents:
  • Main text
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Inherited genetic variants associated with occurrence of multiple primary melanoma.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
Gibbs, David C DC; Orlow, Irene I; Kanetsky, Peter A PA; Luo, Li L; Kricker, Anne A; Armstrong, Bruce K BK; Anton-Culver, Hoda H; Gruber, Stephen B SB; Marrett, Loraine D LD; Gallagher, Richard P RP; Zanetti, Roberto R; Rosso, Stefano S; Dwyer, Terence T; Sharma, Ajay A; La Pilla, Emily E; From, Lynn L; Busam, Klaus J KJ; Cust, Anne E AE; Ollila, David W DW; Begg, Colin B CB; Berwick, Marianne M; Thomas, Nancy E NE; ,
Publication Date: 2015-06

Variant appearance in text: rs4911442
PubMed Link: 25837821
Variant Present in the following documents:
  • Main text
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Genetic factors associated with naevus count and dermoscopic patterns: preliminary results from the Study of Nevi in Children (SONIC).

The British Journal Of Dermatology
Orlow, I I; Satagopan, J M JM; Berwick, M M; Enriquez, H L HL; White, K A M KA; Cheung, K K; Dusza, S W SW; Oliveria, S A SA; Marchetti, M A MA; Scope, A A; Marghoob, A A AA; Halpern, A C AC
Publication Date: 2015-04

Variant appearance in text: rs4911442
PubMed Link: 25307738
Variant Present in the following documents:
  • bjd0172-1081-sd1.pdf
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Bayesian variable selection for hierarchical gene-environment and gene-gene interactions.

Human Genetics
Liu, Changlu C; Ma, Jianzhong J; Amos, Christopher I CI
Publication Date: 2015-01

Variant appearance in text: rs4911442
PubMed Link: 25154630
Variant Present in the following documents:
  • Main text
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Variants associated with susceptibility to pancreatic cancer and melanoma do not reciprocally affect risk.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
Wu, Lang L; Goldstein, Alisa M AM; Yu, Kai K; Yang, Xiaohong Rose XR; Rabe, Kari G KG; Arslan, Alan A AA; Canzian, Federico F; Wolpin, Brian M BM; Stolzenberg-Solomon, Rachael R; Amundadottir, Laufey T LT; Petersen, Gloria M GM
Publication Date: 2014-06

Variant appearance in text: rs4911442
PubMed Link: 24642353
Variant Present in the following documents:
  • Main text
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Joint effect of multiple common SNPs predicts melanoma susceptibility.

Plos One
Fang, Shenying S; Han, Jiali J; Zhang, Mingfeng M; Wang, Li-e LE; Wei, Qingyi Q; Amos, Christopher I CI; Lee, Jeffrey E JE
Publication Date: 2013

Variant appearance in text: rs4911442
PubMed Link: 24392023
Variant Present in the following documents:
  • Main text
  • pone.0085642.pdf
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Replication and predictive value of SNPs associated with melanoma and pigmentation traits in a Southern European case-control study.

Plos One
Stefanaki, Irene I; Panagiotou, Orestis A OA; Kodela, Elisavet E; Gogas, Helen H; Kypreou, Katerina P KP; Chatzinasiou, Foteini F; Nikolaou, Vasiliki V; Plaka, Michaela M; Kalfa, Iro I; Antoniou, Christina C; Ioannidis, John P A JP; Evangelou, Evangelos E; Stratigos, Alexander J AJ
Publication Date: 2013

Variant appearance in text: rs4911442
PubMed Link: 23393597
Variant Present in the following documents:
  • Main text
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Human pigmentation genes under environmental selection.

Genome Biology
Sturm, Richard A RA; Duffy, David L DL
Publication Date: 2012-09-26

Variant appearance in text: rs4911442
PubMed Link: 23110848
Variant Present in the following documents:
  • Main text
  • gb-2012-13-9-248.pdf
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Inherited variants in the MC1R gene and survival from cutaneous melanoma: a BioGenoMEL study.

Pigment Cell & Melanoma Research
Davies, John R JR; Randerson-Moor, Juliette J; Kukalizch, Kairen K; Harland, Mark M; Kumar, Rajiv R; Madhusudan, Srinivasan S; Nagore, Eduardo E; Hansson, Johan J; Höiom, Veronica V; Ghiorzo, Paola P; Gruis, Nelleke A NA; Kanetsky, Peter A PA; Wendt, Judith J; Pjanova, Dace D; Puig, Susana S; Saiag, Philippe P; Schadendorf, Dirk D; Soufir, Nadem N; Okamoto, Ichiro I; Affleck, Paul P; García-Casado, Zaida Z; Ogbah, Zighereda Z; Ozola, Aija A; Queirolo, Paola P; Sucker, Antje A; Barrett, Jennifer H JH; van Doorn, Remco R; Bishop, D Timothy DT; Newton-Bishop, Julia J
Publication Date: 2012-05

Variant appearance in text: rs4911442
PubMed Link: 22325793
Variant Present in the following documents:
  • Main text
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Genome-wide association study identifies three new melanoma susceptibility loci.

Nature Genetics
Barrett, Jennifer H JH; Iles, Mark M MM; Harland, Mark M; Taylor, John C JC; Aitken, Joanne F JF; Andresen, Per Arne PA; Akslen, Lars A LA; Armstrong, Bruce K BK; Avril, Marie-Francoise MF; Azizi, Esther E; Bakker, Bert B; Bergman, Wilma W; Bianchi-Scarrà, Giovanna G; Bressac-de Paillerets, Brigitte B; Calista, Donato D; Cannon-Albright, Lisa A LA; Corda, Eve E; Cust, Anne E AE; Dębniak, Tadeusz T; Duffy, David D; Dunning, Alison M AM; Easton, Douglas F DF; Friedman, Eitan E; Galan, Pilar P; Ghiorzo, Paola P; Giles, Graham G GG; Hansson, Johan J; Hocevar, Marko M; Höiom, Veronica V; Hopper, John L JL; Ingvar, Christian C; Janssen, Bart B; Jenkins, Mark A MA; Jönsson, Göran G; Kefford, Richard F RF; Landi, Giorgio G; Landi, Maria Teresa MT; Lang, Julie J; Lubiński, Jan J; Mackie, Rona R; Malvehy, Josep J; Martin, Nicholas G NG; Molven, Anders A; Montgomery, Grant W GW; van Nieuwpoort, Frans A FA; Novakovic, Srdjan S; Olsson, Håkan H; Pastorino, Lorenza L; Puig, Susana S; Puig-Butille, Joan Anton JA; Randerson-Moor, Juliette J; Snowden, Helen H; Tuominen, Rainer R; Van Belle, Patricia P; van der Stoep, Nienke N; Whiteman, David C DC; Zelenika, Diana D; Han, Jiali J; Fang, Shenying S; Lee, Jeffrey E JE; Wei, Qingyi Q; Lathrop, G Mark GM; Gillanders, Elizabeth M EM; Brown, Kevin M KM; Goldstein, Alisa M AM; Kanetsky, Peter A PA; Mann, Graham J GJ; Macgregor, Stuart S; Elder, David E DE; Amos, Christopher I CI; Hayward, Nicholas K NK; Gruis, Nelleke A NA; Demenais, Florence F; Bishop, Julia A Newton JA; Bishop, D Timothy DT; ,
Publication Date: 2011-10-09

Variant appearance in text: rs4911442
PubMed Link: 21983787
Variant Present in the following documents:
  • Main text
  • NIHMS335189-supplement-1.pdf
  • nihms335189.pdf
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Genome-wide association study identifies novel loci predisposing to cutaneous melanoma.

Human Molecular Genetics
Amos, Christopher I CI; Wang, Li-E LE; Lee, Jeffrey E JE; Gershenwald, Jeffrey E JE; Chen, Wei V WV; Fang, Shenying S; Kosoy, Roman R; Zhang, Mingfeng M; Qureshi, Abrar A AA; Vattathil, Selina S; Schacherer, Christopher W CW; Gardner, Julie M JM; Wang, Yuling Y; Bishop, D Tim DT; Barrett, Jennifer H JH; , ; MacGregor, Stuart S; Hayward, Nicholas K NK; Martin, Nicholas G NG; Duffy, David L DL; , ; Mann, Graham J GJ; Cust, Anne A; Hopper, John J; , ; Brown, Kevin M KM; Grimm, Elizabeth A EA; Xu, Yaji Y; Han, Younghun Y; Jing, Kaiyan K; McHugh, Caitlin C; Laurie, Cathy C CC; Doheny, Kim F KF; Pugh, Elizabeth W EW; Seldin, Michael F MF; Han, Jiali J; Wei, Qingyi Q
Publication Date: 2011-12-15

Variant appearance in text: rs4911442
PubMed Link: 21926416
Variant Present in the following documents:
  • Main text
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Melanocortin MC₁ receptor in human genetics and model systems.

European Journal Of Pharmacology
Beaumont, Kimberley A KA; Wong, Shu S SS; Ainger, Stephen A SA; Liu, Yan Yan YY; Patel, Mira P MP; Millhauser, Glenn L GL; Smith, Jennifer J JJ; Alewood, Paul F PF; Leonard, J Helen JH; Sturm, Richard A RA
Publication Date: 2011-06-11

Variant appearance in text: rs4911442
PubMed Link: 21199646
Variant Present in the following documents:
  • Main text
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A versatile gene-based test for genome-wide association studies.

American Journal Of Human Genetics
Liu, Jimmy Z JZ; McRae, Allan F AF; Nyholt, Dale R DR; Medland, Sarah E SE; Wray, Naomi R NR; Brown, Kevin M KM; , ; Hayward, Nicholas K NK; Montgomery, Grant W GW; Visscher, Peter M PM; Martin, Nicholas G NG; Macgregor, Stuart S
Publication Date: 2010-07-09

Variant appearance in text: rs4911442
PubMed Link: 20598278
Variant Present in the following documents:
  • Main text
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Web-based, participant-driven studies yield novel genetic associations for common traits.

Plos Genetics
Eriksson, Nicholas N; Macpherson, J Michael JM; Tung, Joyce Y JY; Hon, Lawrence S LS; Naughton, Brian B; Saxonov, Serge S; Avey, Linda L; Wojcicki, Anne A; Pe'er, Itsik I; Mountain, Joanna J
Publication Date: 2010-06-24

Variant appearance in text: rs4911442
PubMed Link: 20585627
Variant Present in the following documents:
  • Main text
  • pgen.1000993.pdf
  • pgen.1000993.s007.pdf
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Genome-wide association studies of pigmentation and skin cancer: a review and meta-analysis.

Pigment Cell & Melanoma Research
Gerstenblith, Meg R MR; Shi, Jianxin J; Landi, Maria Teresa MT
Publication Date: 2010-10

Variant appearance in text: rs4911442
PubMed Link: 20546537
Variant Present in the following documents:
  • Main text
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Multiple pigmentation gene polymorphisms account for a substantial proportion of risk of cutaneous malignant melanoma.

The Journal Of Investigative Dermatology
Duffy, David L DL; Zhao, Zhen Z ZZ; Sturm, Richard A RA; Hayward, Nicholas K NK; Martin, Nicholas G NG; Montgomery, Grant W GW
Publication Date: 2010-02

Variant appearance in text: rs4911442
PubMed Link: 19710684
Variant Present in the following documents:
  • Main text
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Genome-wide association study identifies three loci associated with melanoma risk.

Nature Genetics
Bishop, D Timothy DT; Demenais, Florence F; Iles, Mark M MM; Harland, Mark M; Taylor, John C JC; Corda, Eve E; Randerson-Moor, Juliette J; Aitken, Joanne F JF; Avril, Marie-Francoise MF; Azizi, Esther E; Bakker, Bert B; Bianchi-Scarrà, Giovanna G; Bressac-de Paillerets, Brigitte B; Calista, Donato D; Cannon-Albright, Lisa A LA; Chin-A-Woeng, Thomas T; Debniak, Tadeusz T; Galore-Haskel, Gilli G; Ghiorzo, Paola P; Gut, Ivo I; Hansson, Johan J; Hocevar, Marko M; Höiom, Veronica V; Hopper, John L JL; Ingvar, Christian C; Kanetsky, Peter A PA; Kefford, Richard F RF; Landi, Maria Teresa MT; Lang, Julie J; Lubiński, Jan J; Mackie, Rona R; Malvehy, Josep J; Mann, Graham J GJ; Martin, Nicholas G NG; Montgomery, Grant W GW; van Nieuwpoort, Frans A FA; Novakovic, Srdjan S; Olsson, Håkan H; Puig, Susana S; Weiss, Marjan M; van Workum, Wilbert W; Zelenika, Diana D; Brown, Kevin M KM; Goldstein, Alisa M AM; Gillanders, Elizabeth M EM; Boland, Anne A; Galan, Pilar P; Elder, David E DE; Gruis, Nelleke A NA; Hayward, Nicholas K NK; Lathrop, G Mark GM; Barrett, Jennifer H JH; Bishop, Julia A Newton JA
Publication Date: 2009-08

Variant appearance in text: rs4911442
PubMed Link: 19578364
Variant Present in the following documents:
  • Main text
View BVdb publication page



Common sequence variants on 20q11.22 confer melanoma susceptibility.

Nature Genetics
Brown, Kevin M KM; Macgregor, Stuart S; Montgomery, Grant W GW; Craig, David W DW; Zhao, Zhen Zhen ZZ; Iyadurai, Kelly K; Henders, Anjali K AK; Homer, Nils N; Campbell, Megan J MJ; Stark, Mitchell M; Thomas, Shane S; Schmid, Helen H; Holland, Elizabeth A EA; Gillanders, Elizabeth M EM; Duffy, David L DL; Maskiell, Judith A JA; Jetann, Jodie J; Ferguson, Megan M; Stephan, Dietrich A DA; Cust, Anne E AE; Whiteman, David D; Green, Adele A; Olsson, Håkan H; Puig, Susana S; Ghiorzo, Paola P; Hansson, Johan J; Demenais, Florence F; Goldstein, Alisa M AM; Gruis, Nelleke A NA; Elder, David E DE; Bishop, Julia Newton JN; Kefford, Richard F RF; Giles, Graham G GG; Armstrong, Bruce K BK; Aitken, Joanne F JF; Hopper, John L JL; Martin, Nicholas G NG; Trent, Jeffrey M JM; Mann, Graham J GJ; Hayward, Nicholas K NK
Publication Date: 2008-07

Variant appearance in text: rs4911442
PubMed Link: 18488026
Variant Present in the following documents:
  • Main text
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