MX2 c.-71-2682C>T

Variant ID: 21-42746081-C-T

NM_002463.1(MX2):c.-71-2682C>T

This variant was identified in 25 publications

View GRCh38 version.




Publications:


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: rs45430
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: rs45430
PubMed Link: 34898573
Variant Present in the following documents:
  • Main text
  • curroncol-28-00401.pdf
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MX2 mediates establishment of interferon response profile, regulates XAF1, and can sensitize melanoma cells to targeted therapy.

Cancer Medicine
Juraleviciute, Marina M; Nsengimana, Jérémie J; Newton-Bishop, Julia J; Hendriks, Gert J GJ; Slipicevic, Ana A
Publication Date: 2021-04

Variant appearance in text: rs45430
PubMed Link: 33734579
Variant Present in the following documents:
  • Main text
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Germline variants are associated with increased primary melanoma tumor thickness at diagnosis.

Human Molecular Genetics
Mangantig, Ernest E; MacGregor, Stuart S; Iles, Mark M MM; Scolyer, Richard A RA; Cust, Anne E AE; Hayward, Nicholas K NK; Montgomery, Grant W GW; Duffy, David L DL; Thompson, John F JF; Henders, Anjali A; Bowdler, Lisa L; Rowe, Casey C; Cadby, Gemma G; Mann, Graham J GJ; Whiteman, David C DC; Long, Georgina V GV; Ward, Sarah V SV; Khosrotehrani, Kiarash K; Barrett, Jennifer H JH; Law, Matthew H MH
Publication Date: 2021-01-06

Variant appearance in text: rs45430
PubMed Link: 33410475
Variant Present in the following documents:
  • hmg-2020-ez-00182_law_supplementary_table_clean_ddaa222.xlsx, sheet 1
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Association of Known Melanoma Risk Factors with Primary Melanoma of the Scalp and Neck.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
Wood, Renee P RP; Heyworth, Jane S JS; McCarthy, Nina S NS; Mauguen, Audrey A; Berwick, Marianne M; Thomas, Nancy E NE; Millward, Michael J MJ; Anton-Culver, Hoda H; Cust, Anne E AE; Dwyer, Terence T; Gallagher, Richard P RP; Gruber, Stephen B SB; Kanetsky, Peter A PA; Orlow, Irene I; Rosso, Stefano S; Moses, Eric K EK; Begg, Colin B CB; Ward, Sarah V SV
Publication Date: 2020-11

Variant appearance in text: rs45430
PubMed Link: 32856602
Variant Present in the following documents:
  • Main text
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Allele-specific DNA methylation is increased in cancers and its dense mapping in normal plus neoplastic cells increases the yield of disease-associated regulatory SNPs.

Genome Biology
Do, Catherine C; Dumont, Emmanuel L P ELP; Salas, Martha M; Castano, Angelica A; Mujahed, Huthayfa H; Maldonado, Leonel L; Singh, Arunjot A; DaSilva-Arnold, Sonia C SC; Bhagat, Govind G; Lehman, Soren S; Christiano, Angela M AM; Madhavan, Subha S; Nagy, Peter L PL; Green, Peter H R PHR; Feinman, Rena R; Trimble, Cornelia C; Illsley, Nicholas P NP; Marder, Karen K; Honig, Lawrence L; Monk, Catherine C; Goy, Andre A; Chow, Kar K; Goldlust, Samuel S; Kaptain, George G; Siegel, David D; Tycko, Benjamin B
Publication Date: 2020-06-29

Variant appearance in text: rs45430
PubMed Link: 32594908
Variant Present in the following documents:
  • Main text
  • 13059_2020_Article_2059.pdf
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Massively parallel reporter assays of melanoma risk variants identify MX2 as a gene promoting melanoma.

Nature Communications
Choi, Jiyeon J; Zhang, Tongwu T; Vu, Andrew A; Ablain, Julien J; Makowski, Matthew M MM; Colli, Leandro M LM; Xu, Mai M; Hennessey, Rebecca C RC; Yin, Jinhu J; Rothschild, Harriet H; Gräwe, Cathrin C; Kovacs, Michael A MA; Funderburk, Karen M KM; Brossard, Myriam M; Taylor, John J; Pasaniuc, Bogdan B; Chari, Raj R; Chanock, Stephen J SJ; Hoggart, Clive J CJ; Demenais, Florence F; Barrett, Jennifer H JH; Law, Matthew H MH; Iles, Mark M MM; Yu, Kai K; Vermeulen, Michiel M; Zon, Leonard I LI; Brown, Kevin M KM
Publication Date: 2020-06-01

Variant appearance in text: rs45430
PubMed Link: 32483191
Variant Present in the following documents:
  • Main text
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MX 2 is a novel regulator of cell cycle in melanoma cells.

Pigment Cell & Melanoma Research
Juraleviciute, Marina M; Pozniak, Joanna J; Nsengimana, Jérémie J; Harland, Mark M; Randerson-Moor, Juliette J; Wernhoff, Patrik P; Bassarova, Assia A; Øy, Geir Frode GF; Trøen, Gunhild G; Flørenes, Vivi Ann VA; Bishop, David Timothy DT; Herlyn, Meenhard M; Newton-Bishop, Julia J; Slipicevic, Ana A
Publication Date: 2020-05

Variant appearance in text: rs45430
PubMed Link: 31660681
Variant Present in the following documents:
  • Main text
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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: rs45430
PubMed Link: 31568773
Variant Present in the following documents:
  • Main text
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Evidence of a Causal Association Between Cancer and Alzheimer's Disease: a Mendelian Randomization Analysis.

Scientific Reports
Seddighi, Sahba S; Houck, Alexander L AL; Rowe, James B JB; Pharoah, Paul D P PDP
Publication Date: 2019-09-19

Variant appearance in text: rs45430
PubMed Link: 31537833
Variant Present in the following documents:
  • 41598_2019_49795_MOESM1_ESM.pdf
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Novel pleiotropic risk loci for melanoma and nevus density implicate multiple biological pathways.

Nature Communications
Duffy, David L DL; Zhu, Gu G; Li, Xin X; Sanna, Marianna M; Iles, Mark M MM; Jacobs, Leonie C LC; Evans, David M DM; Yazar, Seyhan S; Beesley, Jonathan J; Law, Matthew H MH; Kraft, Peter P; Visconti, Alessia A; Taylor, John C JC; Liu, Fan F; Wright, Margaret J MJ; Henders, Anjali K AK; Bowdler, Lisa L; Glass, Dan D; Ikram, M Arfan MA; Uitterlinden, André G AG; Madden, Pamela A PA; Heath, Andrew C AC; Nelson, Elliot C EC; Green, Adele C AC; Chanock, Stephen S; Barrett, Jennifer H JH; Brown, Matthew A MA; Hayward, Nicholas K NK; MacGregor, Stuart S; Sturm, Richard A RA; Hewitt, Alex W AW; , ; Kayser, Manfred M; Hunter, David J DJ; Newton Bishop, Julia A JA; Spector, Timothy D TD; Montgomery, Grant W GW; Mackey, David A DA; Smith, George Davey GD; Nijsten, Tamar E TE; Bishop, D Timothy DT; Bataille, Veronique V; Falchi, Mario M; Han, Jiali J; Martin, Nicholas G NG
Publication Date: 2018-11-14

Variant appearance in text: rs45430
PubMed Link: 30429480
Variant Present in the following documents:
  • 41467_2018_6649_MOESM1_ESM.pdf
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The digital age of melanoma management: detection and diagnostics.

Melanoma Management
Fogel, Alexander L AL; Sarin, Kavita K
Publication Date: 2015-11

Variant appearance in text: rs45430
PubMed Link: 30190865
Variant Present in the following documents:
  • Main text
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Assessing the Incremental Contribution of Common Genomic Variants to Melanoma Risk Prediction in Two Population-Based Studies.

The Journal Of Investigative Dermatology
Cust, Anne E AE; Drummond, Martin M; Kanetsky, Peter A PA; , ; , ; Goldstein, Alisa M AM; Barrett, Jennifer H JH; MacGregor, Stuart S; Law, Matthew H MH; Iles, Mark M MM; Bui, Minh M; Hopper, John L JL; Brossard, Myriam M; Demenais, Florence F; Taylor, John C JC; Hoggart, Clive C; Brown, Kevin M KM; Landi, Maria Teresa MT; Newton-Bishop, Julia A JA; Mann, Graham J GJ; Bishop, D Timothy DT
Publication Date: 2018-12

Variant appearance in text: rs45430
PubMed Link: 29890168
Variant Present in the following documents:
  • Main text
  • main.pdf
  • mmc1.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: rs45430
PubMed Link: 29753029
Variant Present in the following documents:
  • Main text
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Obligatory and facilitative allelic variation in the DNA methylome within common disease-associated loci.

Nature Communications
Bell, Christopher G CG; Gao, Fei F; Yuan, Wei W; Roos, Leonie L; Acton, Richard J RJ; Xia, Yudong Y; Bell, Jordana J; Ward, Kirsten K; Mangino, Massimo M; Hysi, Pirro G PG; Wang, Jun J; Spector, Timothy D TD
Publication Date: 2018-01-02

Variant appearance in text: rs45430
PubMed Link: 29295990
Variant Present in the following documents:
  • Main text
  • 41467_2017_Article_1586.pdf
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Functional melanoma-risk variant IRF4 rs12203592 associated with Breslow thickness: a pooled international study of primary melanomas.

The British Journal Of Dermatology
Gibbs, D C DC; Ward, S V SV; Orlow, I I; Cadby, G G; Kanetsky, P A PA; Luo, L L; Busam, K J KJ; Kricker, A A; Armstrong, B K BK; Cust, A E AE; Anton-Culver, H H; Gallagher, R P RP; Zanetti, R R; Rosso, S S; Sacchetto, L L; Ollila, D W DW; Begg, C B CB; Berwick, M M; Thomas, N E NE; ,
Publication Date: 2017-11

Variant appearance in text: rs45430
PubMed Link: 28667740
Variant Present in the following documents:
  • Main text
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Two-stage genome-wide association study identifies a novel susceptibility locus associated with melanoma.

Oncotarget
Ransohoff, Katherine J KJ; Wu, Wenting W; Cho, Hyunje G HG; Chahal, Harvind C HC; Lin, Yuan Y; Dai, Hong-Ji HJ; Amos, Christopher I CI; Lee, Jeffrey E JE; Tang, Jean Y JY; Hinds, David A DA; Han, Jiali J; Wei, Qingyi Q; Sarin, Kavita Y KY
Publication Date: 2017-03-14

Variant appearance in text: rs45430
PubMed Link: 28212542
Variant Present in the following documents:
  • Main text
View BVdb publication page



Higher Nevus Count Exhibits a Distinct DNA Methylation Signature in Healthy Human Skin: Implications for Melanoma.

The Journal Of Investigative Dermatology
Roos, Leonie L; Sandling, Johanna K JK; Bell, Christopher G CG; Glass, Daniel D; Mangino, Massimo M; Spector, Tim D TD; Deloukas, Panos P; Bataille, Veronique V; Bell, Jordana T JT
Publication Date: 2017-04

Variant appearance in text: rs45430
PubMed Link: 27993549
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: rs45430
PubMed Link: 25837821
Variant Present in the following documents:
  • Main text
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A Web-based database of genetic association studies in cutaneous melanoma enhanced with network-driven data exploration tools.

Database : The Journal Of Biological Databases And Curation
Athanasiadis, Emmanouil I EI; Antonopoulou, Kyriaki K; Chatzinasiou, Foteini F; Lill, Christina M CM; Bourdakou, Marilena M MM; Sakellariou, Argiris A; Kypreou, Katerina K; Stefanaki, Irene I; Evangelou, Evangelos E; Ioannidis, John P A JP; Bertram, Lars L; Stratigos, Alexander J AJ; Spyrou, George M GM
Publication Date: 2014

Variant appearance in text: rs45430
PubMed Link: 25380778
Variant Present in the following documents:
  • bau101.pdf
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Fine mapping of genetic susceptibility loci for melanoma reveals a mixture of single variant and multiple variant regions.

International Journal Of Cancer
Barrett, Jennifer H JH; Taylor, John C JC; Bright, Chloe C; Harland, Mark M; Dunning, Alison M AM; Akslen, Lars A LA; Andresen, Per A PA; Avril, Marie-Françoise MF; Azizi, Esther E; Bianchi Scarrà, Giovanna G; Brossard, Myriam M; Brown, Kevin M KM; Dębniak, Tadeusz T; Elder, David E DE; Friedman, Eitan E; Ghiorzo, Paola P; Gillanders, Elizabeth M EM; Gruis, Nelleke A NA; Hansson, Johan J; Helsing, Per P; Hočevar, Marko M; Höiom, Veronica V; Ingvar, Christian C; Landi, Maria Teresa MT; Lang, Julie J; Lathrop, G Mark GM; Lubiński, Jan J; Mackie, Rona M RM; Molven, Anders A; Novaković, Srdjan S; Olsson, Håkan H; Puig, Susana S; Puig-Butille, Joan Anton JA; van der Stoep, Nienke N; van Doorn, Remco R; van Workum, Wilbert W; Goldstein, Alisa M AM; Kanetsky, Peter A PA; Pharoah, Paul D P PD; Demenais, Florence F; Hayward, Nicholas K NK; Newton Bishop, Julia A JA; Bishop, D Timothy DT; Iles, Mark M MM; ,
Publication Date: 2015-03-15

Variant appearance in text: rs45430
PubMed Link: 25077817
Variant Present in the following documents:
  • Main text
  • ijc0136-1351.pdf
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Identification of a melanoma susceptibility locus and somatic mutation in TET2.

Carcinogenesis
Song, Fengju F; Amos, Christopher I CI; Lee, Jeffrey E JE; Lian, Christine G CG; Fang, Shenying S; Liu, Hongliang H; MacGregor, Stuart S; Iles, Mark M MM; Law, Matthew H MH; Lindeman, Neal I NI; Montgomery, Grant W GW; Duffy, David L DL; Cust, Anne E AE; Jenkins, Mark A MA; Whiteman, David C DC; Kefford, Richard F RF; Giles, Graham G GG; Armstrong, Bruce K BK; Aitken, Joanne F JF; Hopper, John L JL; Brown, Kevin M KM; Martin, Nicholas G NG; Mann, Graham J GJ; Bishop, D Timothy DT; Bishop, Julia A Newton JA; , ; Kraft, Peter P; Qureshi, Abrar A AA; Kanetsky, Peter A PA; Hayward, Nicholas K NK; Hunter, David J DJ; Wei, Qingyi Q; Han, Jiali J
Publication Date: 2014-09

Variant appearance in text: rs45430
PubMed Link: 24980573
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: rs45430
PubMed Link: 24642353
Variant Present in the following documents:
  • Main text
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Update on the Epidemiology of Melanoma.

Current Dermatology Reports
Chen, Steven T ST; Geller, Alan C AC; Tsao, Hensin H
Publication Date: 2013-03-01

Variant appearance in text: rs45430
PubMed Link: 23580930
Variant Present in the following documents:
  • Main text
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Genetic variants in PARP1 (rs3219090) and IRF4 (rs12203592) genes associated with melanoma susceptibility in a Spanish population.

Bmc Cancer
Peña-Chilet, Maria M; Blanquer-Maceiras, Maite M; Ibarrola-Villava, Maider M; Martinez-Cadenas, Conrado C; Martin-Gonzalez, Manuel M; Gomez-Fernandez, Cristina C; Mayor, Matias M; Aviles, Juan Antonio JA; Lluch, Ana A; Ribas, Gloria G
Publication Date: 2013-03-27

Variant appearance in text: rs45430
PubMed Link: 23537197
Variant Present in the following documents:
  • Main text
  • 1471-2407-13-160.pdf
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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: rs45430
PubMed Link: 21983787
Variant Present in the following documents:
  • Main text
  • NIHMS335189-supplement-1.pdf
  • nihms335189.pdf
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