TGFBR1 c.1131-402T>G

Variant ID: 9-101908365-T-G

NM_004612.2(TGFBR1):c.1131-402T>G

This variant was identified in 28 publications

View GRCh38 version.




Publications:


Rare Dysfunctional Complement Factor I Genetic Variants and Progression to Advanced Age-Related Macular Degeneration.

Ophthalmology Science
Seddon, Johanna M JM; Rosner, Bernard B; De, Dikha D; Huan, Tianxiao T; Java, Anuja A; Atkinson, John J
Publication Date: 2023-06

Variant appearance in text: rs334353
PubMed Link: 36909148
Variant Present in the following documents:
  • Main text
  • main.pdf
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Genetic and environmental risk factors for reticular pseudodrusen in the EUGENDA study.

Molecular Vision
Altay, Lebriz L; Liakopoulos, Sandra S; Berghold, Aileen A; Rosenberger, Kerstin-Daniela KD; Ernst, Angela A; de Breuk, Anita A; den Hollander, Anneke I AI; Fauser, Sascha S; Schick, Tina T
Publication Date: 2021

Variant appearance in text: rs334353
PubMed Link: 35136347
Variant Present in the following documents:
  • Main text
  • mv-v27-757.pdf
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Age-related macular degeneration: Epidemiology, genetics, pathophysiology, diagnosis, and targeted therapy.

Genes & Diseases
Deng, Yanhui Y; Qiao, Lifeng L; Du, Mingyan M; Qu, Chao C; Wan, Ling L; Li, Jie J; Huang, Lulin L
Publication Date: 2022-01

Variant appearance in text: rs334353
PubMed Link: 35005108
Variant Present in the following documents:
  • Main text
  • main.pdf
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The Genetic Background of Central Serous Chorioretinopathy: A Review on Central Serous Chorioretinopathy Genes.

Journal Of Genomics
Giannopoulos, Konstantinos K; Gazouli, Maria M; Chatzistefanou, Klio K; Bakouli, Anthi A; Moschos, Marilita M MM
Publication Date: 2021

Variant appearance in text: rs334353
PubMed Link: 33456587
Variant Present in the following documents:
  • Main text
  • jgenv09p0010.pdf
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Rare and Common Genetic Variants, Smoking, and Body Mass Index: Progression and Earlier Age of Developing Advanced Age-Related Macular Degeneration.

Investigative Ophthalmology & Visual Science
Seddon, Johanna M JM; Widjajahakim, Rafael R; Rosner, Bernard B
Publication Date: 2020-12-01

Variant appearance in text: rs334353
PubMed Link: 33369641
Variant Present in the following documents:
  • Main text
  • iovs-61-14-32_s005.pdf
  • iovs-61-14-32.pdf
  • iovs-61-14-32_s004.pdf
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Genetic Susceptibility, Diet Quality, and Two-Step Progression in Drusen Size.

Investigative Ophthalmology & Visual Science
Merle, Bénédicte M J BMJ; Rosner, Bernard B; Seddon, Johanna M JM
Publication Date: 2020-05-11

Variant appearance in text: rs334353
PubMed Link: 32407518
Variant Present in the following documents:
  • Main text
  • iovs-61-5-17.pdf
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Risk factors for progression of age-related macular degeneration.

Ophthalmic & Physiological Optics : The Journal Of The British College Of Ophthalmic Opticians (Optometrists)
Heesterbeek, Thomas J TJ; Lorés-Motta, Laura L; Hoyng, Carel B CB; Lechanteur, Yara T E YTE; den Hollander, Anneke I AI
Publication Date: 2020-03

Variant appearance in text: rs334353
PubMed Link: 32100327
Variant Present in the following documents:
  • Main text
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Association of Irregular Pigment Epithelial Detachment in Central Serous Chorioretinopathy with Genetic Variants Implicated in Age-related Macular Degeneration.

Scientific Reports
Cho, Soo Chang SC; Ryoo, Na-Kyung NK; Ahn, Jeeyun J; Woo, Se Joon SJ; Park, Kyu Hyung KH
Publication Date: 2020-01-27

Variant appearance in text: rs334353
PubMed Link: 31988359
Variant Present in the following documents:
  • Main text
  • 41598_2020_Article_57747.pdf
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Do age-related macular degeneration genes show association with keratoconus?

Eye And Vision (London, England)
Cao, Ke K; Sahebjada, Srujana S; Richardson, Andrea J AJ; Baird, Paul N PN
Publication Date: 2019

Variant appearance in text: rs334353
PubMed Link: 31819893
Variant Present in the following documents:
  • Main text
  • 40662_2019_Article_164.pdf
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Validated Prediction Models for Macular Degeneration Progression and Predictors of Visual Acuity Loss Identify High-Risk Individuals.

American Journal Of Ophthalmology
Seddon, Johanna M JM; Rosner, Bernard B
Publication Date: 2019-02

Variant appearance in text: rs334353
PubMed Link: 30389371
Variant Present in the following documents:
  • Main text
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Uncovering genetic and non-genetic biomarkers specific for exudative age-related macular degeneration: significant association of twelve variants.

Oncotarget
Cascella, Raffaella R; Strafella, Claudia C; Longo, Giuliana G; Ragazzo, Michele M; Manzo, Laura L; De Felici, Cecilia C; Errichiello, Valeria V; Caputo, Valerio V; Viola, Francesco F; Eandi, Chiara Maria CM; Staurenghi, Giovanni G; Cusumano, Andrea A; Mauriello, Silvestro S; Marsella, Luigi Tonino LT; Ciccacci, Cinzia C; Borgiani, Paola P; Sangiuolo, Federica F; Novelli, Giuseppe G; Ricci, Federico F; Giardina, Emiliano E
Publication Date: 2018-01-30

Variant appearance in text: rs334353
PubMed Link: 29487693
Variant Present in the following documents:
  • Main text
  • oncotarget-09-7812.pdf
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A prospective multicenter study on genome wide associations to ranibizumab treatment outcome for age-related macular degeneration.

Scientific Reports
Yamashiro, Kenji K; Mori, Keisuke K; Honda, Shigeru S; Kano, Mariko M; Yanagi, Yasuo Y; Obana, Akira A; Sakurada, Yoichi Y; Sato, Taku T; Nagai, Yoshimi Y; Hikichi, Taiichi T; Kataoka, Yasushi Y; Hara, Chikako C; Koyama, Yasurou Y; Koizumi, Hideki H; Yoshikawa, Munemitsu M; Miyake, Masahiro M; Nakata, Isao I; Tsuchihashi, Takashi T; Horie-Inoue, Kuniko K; Matsumiya, Wataru W; Ogasawara, Masashi M; Obata, Ryo R; Yoneyama, Seigo S; Matsumoto, Hidetaka H; Ohnaka, Masayuki M; Kitamei, Hirokuni H; Sayanagi, Kaori K; Ooto, Sotaro S; Tamura, Hiroshi H; Oishi, Akio A; Kabasawa, Sho S; Ueyama, Kazuhiro K; Miki, Akiko A; Kondo, Naoshi N; Bessho, Hiroaki H; Saito, Masaaki M; Takahashi, Hidenori H; Tan, Xue X; Azuma, Keiko K; Kikushima, Wataru W; Mukai, Ryo R; Ohira, Akihiro A; Gomi, Fumi F; Miyata, Kazunori K; Takahashi, Kanji K; Kishi, Shoji S; Iijima, Hiroyuki H; Sekiryu, Tetsuju T; Iida, Tomohiro T; Awata, Takuya T; Inoue, Satoshi S; Yamada, Ryo R; Matsuda, Fumihiko F; Tsujikawa, Akitaka A; Negi, Akira A; Yoneya, Shin S; Iwata, Takeshi T; Yoshimura, Nagahisa N
Publication Date: 2017-08-23

Variant appearance in text: rs334353
PubMed Link: 28835685
Variant Present in the following documents:
  • Main text
  • 41598_2017_Article_9632.pdf
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Genetics of Unilateral and Bilateral Age-Related Macular Degeneration Severity Stages.

Plos One
Schick, Tina T; Altay, Lebriz L; Viehweger, Eva E; Hoyng, Carel B CB; den Hollander, Anneke I AI; Felsch, Moritz M; Fauser, Sascha S
Publication Date: 2016

Variant appearance in text: rs334353
PubMed Link: 27257685
Variant Present in the following documents:
  • Main text
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Genetic Association Analysis of Drusen Progression.

Investigative Ophthalmology & Visual Science
Hoffman, Joshua D JD; van Grinsven, Mark J J P MJ; Li, Chun C; Brantley, Milam M; McGrath, Josephine J; Agarwal, Anita A; Scott, William K WK; Schwartz, Stephen G SG; Kovach, Jaclyn J; Pericak-Vance, Margaret M; Sanchez, Clara I CI; Haines, Jonathan L JL
Publication Date: 2016-04-01

Variant appearance in text: rs334353
PubMed Link: 27116550
Variant Present in the following documents:
  • i1552-5783-57-4-2225.pdf
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Predictors of Response to Intravitreal Anti-Vascular Endothelial Growth Factor Treatment of Age-Related Macular Degeneration.

American Journal Of Ophthalmology
Shah, Anjali R AR; Williams, Steven S; Baumal, Caroline R CR; Rosner, Bernard B; Duker, Jay S JS; Seddon, Johanna M JM
Publication Date: 2016-03

Variant appearance in text: rs334353
PubMed Link: 26705092
Variant Present in the following documents:
  • Main text
View BVdb publication page



Pachychoroid neovasculopathy and age-related macular degeneration.

Scientific Reports
Miyake, Masahiro M; Ooto, Sotaro S; Yamashiro, Kenji K; Takahashi, Ayako A; Yoshikawa, Munemitsu M; Akagi-Kurashige, Yumiko Y; Ueda-Arakawa, Naoko N; Oishi, Akio A; Nakanishi, Hideo H; Tamura, Hiroshi H; Tsujikawa, Akitaka A; Yoshimura, Nagahisa N
Publication Date: 2015-11-06

Variant appearance in text: rs334353
PubMed Link: 26542071
Variant Present in the following documents:
  • Main text
View BVdb publication page



Polypoidal Choroidal Vasculopathy in Asians.

Journal Of Clinical Medicine
Wong, Chee Wai CW; Wong, Tien Y TY; Cheung, Chui Ming Gemmy CM
Publication Date: 2015-04-24

Variant appearance in text: rs334353
PubMed Link: 26239448
Variant Present in the following documents:
  • Main text
View BVdb publication page



New loci and coding variants confer risk for age-related macular degeneration in East Asians.

Nature Communications
Cheng, Ching-Yu CY; Yamashiro, Kenji K; Chen, Li Jia LJ; Ahn, Jeeyun J; Huang, Lulin L; Huang, Lvzhen L; Cheung, Chui Ming G CM; Miyake, Masahiro M; Cackett, Peter D PD; Yeo, Ian Y IY; Laude, Augustinus A; Mathur, Ranjana R; Pang, Junxiong J; Sim, Kar Seng KS; Koh, Adrian H AH; Chen, Peng P; Lee, Shu Yen SY; Wong, Doric D; Chan, Choi Mun CM; Loh, Boon Kwang BK; Sun, Yaoyao Y; Davila, Sonia S; Nakata, Isao I; Nakanishi, Hideo H; Akagi-Kurashige, Yumiko Y; Gotoh, Norimoto N; Tsujikawa, Akitaka A; Matsuda, Fumihiko F; Mori, Keisuke K; Yoneya, Shin S; Sakurada, Yoichi Y; Iijima, Hiroyuki H; Iida, Tomohiro T; Honda, Shigeru S; Lai, Timothy Yuk Yau TY; Tam, Pancy Oi Sin PO; Chen, Haoyu H; Tang, Shibo S; Ding, Xiaoyan X; Wen, Feng F; Lu, Fang F; Zhang, Xiongze X; Shi, Yi Y; Zhao, Peiquan P; Zhao, Bowen B; Sang, Jinghong J; Gong, Bo B; Dorajoo, Rajkumar R; Yuan, Jian-Min JM; Koh, Woon-Puay WP; van Dam, Rob M RM; Friedlander, Yechiel Y; Lin, Ying Y; Hibberd, Martin L ML; Foo, Jia Nee JN; Wang, Ningli N; Wong, Chang Hua CH; Tan, Gavin S GS; Park, Sang Jun SJ; Bhargava, Mayuri M; Gopal, Lingam L; Naing, Thet T; Liao, Jiemin J; Ong, Peng Guan PG; Mitchell, Paul P; Zhou, Peng P; Xie, Xuefeng X; Liang, Jinlong J; Mei, Junpu J; Jin, Xin X; Saw, Seang-Mei SM; Ozaki, Mineo M; Mizoguchi, Takanori T; Kurimoto, Yasuo Y; Woo, Se Joon SJ; Chung, Hum H; Yu, Hyeong-Gon HG; Shin, Joo Young JY; Park, Dong Ho DH; Kim, In Taek IT; Chang, Woohyok W; Sagong, Min M; Lee, Sang-Joon SJ; Kim, Hyun Woong HW; Lee, Ji Eun JE; Li, Yi Y; Liu, Jianjun J; Teo, Yik Ying YY; Heng, Chew Kiat CK; Lim, Tock Han TH; Yang, Suk-Kyun SK; Song, Kyuyoung K; Vithana, Eranga N EN; Aung, Tin T; Bei, Jin Xin JX; Zeng, Yi Xin YX; Tai, E Shyong ES; Li, Xiao Xin XX; Yang, Zhenglin Z; Park, Kyu-Hyung KH; Pang, Chi Pui CP; Yoshimura, Nagahisa N; Wong, Tien Yin TY; Khor, Chiea Chuen CC
Publication Date: 2015-01-28

Variant appearance in text: rs334353
PubMed Link: 25629512
Variant Present in the following documents:
  • Main text
View BVdb publication page



Endophenotypes for Age-Related Macular Degeneration: Extending Our Reach into the Preclinical Stages of Disease.

Journal Of Clinical Medicine
Gorin, Michael B MB; Weeks, Daniel E DE; Baron, Robert V RV; Conley, Yvette P YP; Ortube, Maria C MC; Nusinowitz, Steven S
Publication Date: 2014-11-28

Variant appearance in text: rs334353
PubMed Link: 25568804
Variant Present in the following documents:
  • Main text
  • jcm-03-01335.pdf
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Age-related macular degeneration: insights into inflammatory genes.

Journal Of Ophthalmology
Cascella, Raffaella R; Ragazzo, Michele M; Strafella, Claudia C; Missiroli, Filippo F; Borgiani, Paola P; Angelucci, Francesco F; Marsella, Luigi Tonino LT; Cusumano, Andrea A; Novelli, Giuseppe G; Ricci, Federico F; Giardina, Emiliano E
Publication Date: 2014

Variant appearance in text: rs334353
PubMed Link: 25478207
Variant Present in the following documents:
  • Main text
  • JOPH2014-582842.pdf
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Using current data to define new approach in age related macular degeneration: need to accelerate translational research.

Current Genomics
Anand, Akshay A; Sharma, Kaushal K; Chen, Wei W; Sharma, Neel Kamal NK
Publication Date: 2014-08

Variant appearance in text: rs334353
PubMed Link: 25132797
Variant Present in the following documents:
  • Main text
  • CG-15-266.pdf
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The role of the complement system in age-related macular degeneration.

Deutsches Arzteblatt International
Weber, Bernhard H F BH; Charbel Issa, Peter P; Pauly, Diana D; Herrmann, Philipp P; Grassmann, Felix F; Holz, Frank G FG
Publication Date: 2014-02-21

Variant appearance in text: rs334353
PubMed Link: 24622760
Variant Present in the following documents:
  • Main text
View BVdb publication page



Three new genetic loci (R1210C in CFH, variants in COL8A1 and RAD51B) are independently related to progression to advanced macular degeneration.

Plos One
Seddon, Johanna M JM; Reynolds, Robyn R; Yu, Yi Y; Rosner, Bernard B
Publication Date: 2014

Variant appearance in text: rs334353
PubMed Link: 24498017
Variant Present in the following documents:
  • Main text
  • pone.0087047.pdf
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Prediction of age-related macular degeneration in the general population: the Three Continent AMD Consortium.

Ophthalmology
Buitendijk, Gabriëlle H S GHS; Rochtchina, Elena E; Myers, Chelsea C; van Duijn, Cornelia M CM; Lee, Kristine E KE; Klein, Barbara E K BEK; Meuer, Stacy M SM; de Jong, Paulus T V M PTVM; Holliday, Elizabeth G EG; Tan, Ava G AG; Uitterlinden, André G AG; Sivakumaran, Theru S TS; Attia, John J; Hofman, Albert A; Mitchell, Paul P; Vingerling, Johannes R JR; Iyengar, Sudha K SK; Janssens, A Cecile J W ACJW; Wang, Jie Jin JJ; Klein, Ronald R; Klaver, Caroline C W CCW
Publication Date: 2013-12

Variant appearance in text: rs334353
PubMed Link: 24120328
Variant Present in the following documents:
  • Main text
View BVdb publication page



Age-related macular degeneration-clinical review and genetics update.

Clinical Genetics
Ratnapriya, R R; Chew, E Y EY
Publication Date: 2013-08

Variant appearance in text: rs334353
PubMed Link: 23713713
Variant Present in the following documents:
  • Main text
View BVdb publication page



Seven new loci associated with age-related macular degeneration.

Nature Genetics
Fritsche, Lars G LG; Chen, Wei W; Schu, Matthew M; Yaspan, Brian L BL; Yu, Yi Y; Thorleifsson, Gudmar G; Zack, Donald J DJ; Arakawa, Satoshi S; Cipriani, Valentina V; Ripke, Stephan S; Igo, Robert P RP; Buitendijk, Gabriëlle H S GH; Sim, Xueling X; Weeks, Daniel E DE; Guymer, Robyn H RH; Merriam, Joanna E JE; Francis, Peter J PJ; Hannum, Gregory G; Agarwal, Anita A; Armbrecht, Ana Maria AM; Audo, Isabelle I; Aung, Tin T; Barile, Gaetano R GR; Benchaboune, Mustapha M; Bird, Alan C AC; Bishop, Paul N PN; Branham, Kari E KE; Brooks, Matthew M; Brucker, Alexander J AJ; Cade, William H WH; Cain, Melinda S MS; Campochiaro, Peter A PA; Chan, Chi-Chao CC; Cheng, Ching-Yu CY; Chew, Emily Y EY; Chin, Kimberly A KA; Chowers, Itay I; Clayton, David G DG; Cojocaru, Radu R; Conley, Yvette P YP; Cornes, Belinda K BK; Daly, Mark J MJ; Dhillon, Baljean B; Edwards, Albert O AO; Evangelou, Evangelos E; Fagerness, Jesen J; Ferreyra, Henry A HA; Friedman, James S JS; Geirsdottir, Asbjorg A; George, Ronnie J RJ; Gieger, Christian C; Gupta, Neel N; Hagstrom, Stephanie A SA; Harding, Simon P SP; Haritoglou, Christos C; Heckenlively, John R JR; Holz, Frank G FG; Hughes, Guy G; Ioannidis, John P A JP; Ishibashi, Tatsuro T; Joseph, Peronne P; Jun, Gyungah G; Kamatani, Yoichiro Y; Katsanis, Nicholas N; N Keilhauer, Claudia C; Khan, Jane C JC; Kim, Ivana K IK; Kiyohara, Yutaka Y; Klein, Barbara E K BE; Klein, Ronald R; Kovach, Jaclyn L JL; Kozak, Igor I; Lee, Clara J CJ; Lee, Kristine E KE; Lichtner, Peter P; Lotery, Andrew J AJ; Meitinger, Thomas T; Mitchell, Paul P; Mohand-Saïd, Saddek S; Moore, Anthony T AT; Morgan, Denise J DJ; Morrison, Margaux A MA; Myers, Chelsea E CE; Naj, Adam C AC; Nakamura, Yusuke Y; Okada, Yukinori Y; Orlin, Anton A; Ortube, M Carolina MC; Othman, Mohammad I MI; Pappas, Chris C; Park, Kyu Hyung KH; Pauer, Gayle J T GJ; Peachey, Neal S NS; Poch, Olivier O; Priya, Rinki Ratna RR; Reynolds, Robyn R; Richardson, Andrea J AJ; Ripp, Raymond R; Rudolph, Guenther G; Ryu, Euijung E; Sahel, José-Alain JA; Schaumberg, Debra A DA; Scholl, Hendrik P N HP; Schwartz, Stephen G SG; Scott, William K WK; Shahid, Humma H; Sigurdsson, Haraldur H; Silvestri, Giuliana G; Sivakumaran, Theru A TA; Smith, R Theodore RT; Sobrin, Lucia L; Souied, Eric H EH; Stambolian, Dwight E DE; Stefansson, Hreinn H; Sturgill-Short, Gwen M GM; Takahashi, Atsushi A; Tosakulwong, Nirubol N; Truitt, Barbara J BJ; Tsironi, Evangelia E EE; Uitterlinden, André G AG; van Duijn, Cornelia M CM; Vijaya, Lingam L; Vingerling, Johannes R JR; Vithana, Eranga N EN; Webster, Andrew R AR; Wichmann, H-Erich HE; Winkler, Thomas W TW; Wong, Tien Y TY; Wright, Alan F AF; Zelenika, Diana D; Zhang, Ming M; Zhao, Ling L; Zhang, Kang K; Klein, Michael L ML; Hageman, Gregory S GS; Lathrop, G Mark GM; Stefansson, Kari K; Allikmets, Rando R; Baird, Paul N PN; Gorin, Michael B MB; Wang, Jie Jin JJ; Klaver, Caroline C W CC; Seddon, Johanna M JM; Pericak-Vance, Margaret A MA; Iyengar, Sudha K SK; Yates, John R W JR; Swaroop, Anand A; Weber, Bernhard H F BH; Kubo, Michiaki M; Deangelis, Margaret M MM; Léveillard, Thierry T; Thorsteinsdottir, Unnur U; Haines, Jonathan L JL; Farrer, Lindsay A LA; Heid, Iris M IM; Abecasis, Gonçalo R GR; ,
Publication Date: 2013-04

Variant appearance in text: rs334353
PubMed Link: 23455636
Variant Present in the following documents:
  • Main text
  • nihms474886.pdf
  • NIHMS474886-supplement-1.pdf
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Genetic studies of age-related macular degeneration: lessons, challenges, and opportunities for disease management.

Ophthalmology
Priya, Rinki Ratna RR; Chew, Emily Y EY; Swaroop, Anand A
Publication Date: 2012-12

Variant appearance in text: rs334353
PubMed Link: 23009893
Variant Present in the following documents:
  • Main text
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A large-scale candidate gene association study of age at menarche and age at natural menopause.

Human Genetics
He, Chunyan C; Kraft, Peter P; Chasman, Daniel I DI; Buring, Julie E JE; Chen, Constance C; Hankinson, Susan E SE; Paré, Guillaume G; Chanock, Stephen S; Ridker, Paul M PM; Hunter, David J DJ
Publication Date: 2010-11

Variant appearance in text: rs334353
PubMed Link: 20734064
Variant Present in the following documents:
  • Main text
View BVdb publication page