TGFBR1 c.*884A>T

Variant ID: 9-101912471-A-T

NM_004612.2(TGFBR1):c.*884A>T

This variant was identified in 40 publications

View GRCh38 version.




Publications:


Case Report: Primary Leptomeningeal Medulloblastoma in a Child: Clinical Case Report and Literature Review.

Frontiers In Pediatrics
Morgacheva, Daria D; Daks, Alexandra A; Smirnova, Anna A; Kim, Aleksandr A; Ryzhkova, Daria D; Mitrofanova, Lubov L; Staliarova, Alena A; Omelina, Evgeniya E; Pindyurin, Alexey A; Fedorova, Olga O; Shuvalov, Oleg O; Petukhov, Alexey A; Dinikina, Yulia Y
Publication Date: 2022

Variant appearance in text: rs334348
PubMed Link: 35899134
Variant Present in the following documents:
  • Table_1.xlsx, sheet 1
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TGF-β/VEGF-A Genetic Variants Interplay in Genetic Susceptibility to Non-Melanocytic Skin Cancer.

Genes
Scola, Letizia L; Bongiorno, Maria Rita MR; Forte, Giusi Irma GI; Aiello, Anna A; Accardi, Giulia G; Scrimali, Chiara C; Spina, Rossella R; Lio, Domenico D; Candore, Giuseppina G
Publication Date: 2022-07-13

Variant appearance in text: rs334348
PubMed Link: 35886018
Variant Present in the following documents:
  • Main text
  • genes-13-01235.pdf
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Identifying Potential miRNA Biomarkers for Gastric Cancer Diagnosis Using Machine Learning Variable Selection Approach.

Frontiers In Genetics
Gilani, Neda N; Arabi Belaghi, Reza R; Aftabi, Younes Y; Faramarzi, Elnaz E; Edgünlü, Tuba T; Somi, Mohammad Hossein MH
Publication Date: 2021

Variant appearance in text: rs334348
PubMed Link: 35082831
Variant Present in the following documents:
  • Main text
  • fgene-12-779455.pdf
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SNPs in miRNAs and Target Sequences: Role in Cancer and Diabetes.

Frontiers In Genetics
Chhichholiya, Yogita Y; Suryan, Aman Kumar AK; Suman, Prabhat P; Munshi, Anjana A; Singh, Sandeep S
Publication Date: 2021

Variant appearance in text: rs334348
PubMed Link: 34925466
Variant Present in the following documents:
  • Main text
  • fgene-12-793523.pdf
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Genetic analysis of sinonasal undifferentiated carcinoma discovers recurrent SWI/SNF alterations and a novel PGAP3-SRPK1 fusion gene.

Bmc Cancer
Heft Neal, Molly E ME; Birkeland, Andrew C AC; Bhangale, Apurva D AD; Zhai, Jingyi J; Kulkarni, Aditi A; Foltin, Susan K SK; Jewell, Brittany M BM; Ludwig, Megan L ML; Pinatti, Lisa L; Jiang, Hui H; McHugh, Jonathan B JB; Marentette, Lawence L; McKean, Erin L EL; Brenner, J Chad JC
Publication Date: 2021-05-29

Variant appearance in text: rs334348
PubMed Link: 34051734
Variant Present in the following documents:
  • 12885_2021_8370_MOESM15_ESM.xlsx, sheet 1
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Single nucleotide variants in immune-response genes and the tumor microenvironment composition predict progression of mantle cell lymphoma.

Bmc Cancer
Assis-Mendonça, Guilherme Rossi GR; Fattori, André A; Rocha, Rafael Malagoli RM; Lourenço, Gustavo Jacob GJ; Delamain, Márcia Torresan MT; Nonogaki, Suely S; de Lima, Vladmir Cláudio Cordeiro VCC; Colleoni, Gisele Wally Braga GWB; de Souza, Cármino Antonio CA; Soares, Fernando Augusto FA; Lima, Carmen Silvia Passos CSP; Vassallo, José J
Publication Date: 2021-03-01

Variant appearance in text: rs334348
PubMed Link: 33648463
Variant Present in the following documents:
  • Main text
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Role and clinical significance of TGF‑β1 and TGF‑βR1 in malignant tumors (Review).

International Journal Of Molecular Medicine
Wang, Junmin J; Xiang, Hongjiao H; Lu, Yifei Y; Wu, Tao T
Publication Date: 2021-04

Variant appearance in text: rs334348
PubMed Link: 33604683
Variant Present in the following documents:
  • Main text
  • ijmm-47-04-04888.pdf
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Influence of single nucleotide polymorphisms among cigarette smoking and non-smoking patients with coronary artery disease, urinary bladder cancer and lung cancer.

Plos One
Laytragoon Lewin, Nongnit N; Karlsson, Jan-Erik JE; Robinsson, David D; Fagerberg, Matida M; Kentsson, Magnus M; Sayardoust, Shariel S; Nilsson, Mats M; Shamoun, Levar L; Andersson, Bengt-Åke BÅ; Löfgren, Sture S; Rutqvist, Lars Erik LE; Lewin, Freddi F
Publication Date: 2021

Variant appearance in text: rs334348
PubMed Link: 33507988
Variant Present in the following documents:
  • Main text
  • pone.0243084.pdf
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Genetic Variability in the microRNA Binding Sites of BMPR1B, TGFBR1, IQGAP1, KRAS, SETD8 and RYR3 and Risk of Breast Cancer in Colombian Women.

Oncotargets And Therapy
Garcia Mesa, Karen K; Bermejo, Justo Lorenzo JL; Torres, Diana D; Gilbert, Michael M; Plass, Christoph C; Hamann, Ute U
Publication Date: 2020

Variant appearance in text: rs334348
PubMed Link: 33311986
Variant Present in the following documents:
  • Main text
  • ott-13-12281.pdf
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Single-nucleotide variants in TGFB1, TGFBR2, IL17A, and IL17F immune response genes contribute to follicular lymphoma susceptibility and aggressiveness.

Blood Cancer Journal
Assis-Mendonça, Guilherme Rossi GR; Lourenço, Gustavo Jacob GJ; Delamain, Márcia Torresan MT; de Lima, Vladmir Cláudio Cordeiro VCC; Colleoni, Gisele Wally Braga GWB; de Souza, Cármino Antônio CA; Soares, Fernando Augusto FA; Lima, Carmen Silvia Passos CSP; Vassallo, José J
Publication Date: 2020-10-06

Variant appearance in text: rs334348
PubMed Link: 33024088
Variant Present in the following documents:
  • Main text
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An integrative microenvironment approach for follicular lymphoma: roles of inflammatory cell subsets and immune-response polymorphisms on disease clinical course.

Oncotarget
Assis-Mendonça, Guilherme Rossi GR; Fattori, André A; Rocha, Rafael Malagoli RM; Lourenço, Gustavo Jacob GJ; Delamain, Márcia Torresan MT; Nonogaki, Suely S; de Lima, Vladmir Cláudio Cordeiro VCC; Colleoni, Gisele Wally Braga GWB; de Souza, Cármino Antonio CA; Soares, Fernando Augusto FA; Lima, Carmen Silvia Passos CSP; Vassallo, José J
Publication Date: 2020-08-18

Variant appearance in text: rs334348
PubMed Link: 32913559
Variant Present in the following documents:
  • Main text
  • oncotarget-11-3153.pdf
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PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology
Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S
Publication Date: 2019-10-22

Variant appearance in text: rs334348
PubMed Link: 31640808
Variant Present in the following documents:
  • 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1
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MicroRNA-binding site polymorphisms and risk of colorectal cancer: A systematic review and meta-analysis.

Cancer Medicine
Gholami, Morteza M; Larijani, Bagher B; Sharifi, Farshad F; Hasani-Ranjbar, Shirin S; Taslimi, Reza R; Bastami, Milad M; Atlasi, Rasha R; Amoli, Mahsa M MM
Publication Date: 2019-12

Variant appearance in text: rs334348
PubMed Link: 31637880
Variant Present in the following documents:
  • Main text
  • CAM4-8-7477.pdf
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Breast Cancer and miR-SNPs: The Importance of miR Germ-Line Genetics.

Non-Coding Rna
Malhotra, Poonam P; Read, Graham H GH; Weidhaas, Joanne B JB
Publication Date: 2019-03-20

Variant appearance in text: rs334348
PubMed Link: 30897768
Variant Present in the following documents:
  • Main text
  • ncrna-05-00027.pdf
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Polymorphisms of TGFBR1, TLR4 are associated with prognosis of gastric cancer in a Chinese population.

Cancer Cell International
He, Bangshun B; Xu, Tao T; Pan, Bei B; Pan, Yuqin Y; Wang, Xuhong X; Dong, Jingwu J; Sun, Huiling H; Xu, Xueni X; Liu, Xiangxiang X; Wang, Shukui S
Publication Date: 2018

Variant appearance in text: rs334348
PubMed Link: 30479570
Variant Present in the following documents:
  • Main text
  • 12935_2018_Article_682.pdf
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Gene-gene interactions in gastrointestinal cancer susceptibility.

Oncotarget
Kim, Jineun J; Yum, Seoyun S; Kang, Changwon C; Kang, Suk-Jo SJ
Publication Date: 2016-10-11

Variant appearance in text: rs334348
PubMed Link: 27588484
Variant Present in the following documents:
  • Main text
  • oncotarget-07-67612.pdf
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Genetic Modifiers of Patent Ductus Arteriosus in Term Infants.

The Journal Of Pediatrics
Patel, Priti M PM; Momany, Allison M AM; Schaa, Kendra L KL; Romitti, Paul A PA; Druschel, Charlotte C; Cooper, Margaret E ME; Marazita, Mary L ML; Murray, Jeffrey C JC; Dagle, John M JM
Publication Date: 2016-09

Variant appearance in text: rs334348
PubMed Link: 27344223
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association of a let-7 miRNA binding region of TGFBR1 with hereditary mismatch repair proficient colorectal cancer (MSS HNPCC).

Carcinogenesis
Xicola, Rosa M RM; Bontu, Sneha S; Doyle, Brian J BJ; Rawson, Jamie J; Garre, Pilar P; Lee, Esther E; de la Hoya, Miguel M; Bessa, Xavier X; Clofent, Joan J; Bujanda, Luis L; Balaguer, Francesc F; Castellví-Bel, Sergi S; Alenda, Cristina C; Jover, Rodrigo R; Ruiz-Ponte, Clara C; Syngal, Sapna S; Andreu, Montserrat M; Carracedo, Angel A; Castells, Antoni A; Newcomb, Polly A PA; Lindor, Noralane N; Potter, John D JD; Baron, John A JA; Ellis, Nathan A NA; Caldes, Trinidad T; LLor, Xavier X
Publication Date: 2016-08

Variant appearance in text: rs334348
PubMed Link: 27234654
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic Polymorphisms of TGFB1, TGFBR1, SNAI1 and TWIST1 Are Associated with Endometrial Cancer Susceptibility in Chinese Han Women.

Plos One
Yang, Li L; Wang, Ya-Jun YJ; Zheng, Li-Yuan LY; Jia, Yu-Mian YM; Chen, Yi-Lin YL; Chen, Lan L; Liu, Dong-Ge DG; Li, Xiang-Hong XH; Guo, Hong-Yan HY; Sun, Ying-Li YL; Tian, Xin-Xia XX; Fang, Wei-Gang WG
Publication Date: 2016

Variant appearance in text: rs334348
PubMed Link: 27171242
Variant Present in the following documents:
  • Main text
  • pone.0155270.pdf
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Proteogenomic analysis reveals exosomes are more oncogenic than ectosomes.

Oncotarget
Keerthikumar, Shivakumar S; Gangoda, Lahiru L; Liem, Michael M; Fonseka, Pamali P; Atukorala, Ishara I; Ozcitti, Cemil C; Mechler, Adam A; Adda, Christopher G CG; Ang, Ching-Seng CS; Mathivanan, Suresh S
Publication Date: 2015-06-20

Variant appearance in text: rs334348
PubMed Link: 25944692
Variant Present in the following documents:
  • oncotarget-06-15375-s005.xlsx, sheet 2
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Critical analysis of the potential for microRNA biomarkers in breast cancer management.

Breast Cancer (Dove Medical Press)
Graveel, Carrie R CR; Calderone, Heather M HM; Westerhuis, Jennifer J JJ; Winn, Mary E ME; Sempere, Lorenzo F LF
Publication Date: 2015

Variant appearance in text: rs334348
PubMed Link: 25759599
Variant Present in the following documents:
  • Main text
  • bctt-7-059.pdf
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MicroRNA binding site polymorphisms as biomarkers in cancer management and research.

Pharmacogenomics And Personalized Medicine
Cipollini, Monica M; Landi, Stefano S; Gemignani, Federica F
Publication Date: 2014

Variant appearance in text: rs334348
PubMed Link: 25114582
Variant Present in the following documents:
  • Main text
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Genome-wide association study combined with biological context can reveal more disease-related SNPs altering microRNA target seed sites.

Bmc Genomics
Wu, Di D; Yang, Gang G; Zhang, Lifang L; Xue, Jiwei J; Wen, Zhining Z; Li, Menglong M
Publication Date: 2014-08-08

Variant appearance in text: rs334348
PubMed Link: 25106527
Variant Present in the following documents:
  • Main text
View BVdb publication page



Role of TGF-β pathway polymorphisms in sporadic thoracic aortic aneurysm: rs900 TGF-β2 is a marker of differential gender susceptibility.

Mediators Of Inflammation
Scola, Letizia L; Di Maggio, Federica M FM; Vaccarino, Loredana L; Bova, Manuela M; Forte, Giusy I GI; Pisano, Calogera C; Candore, Giuseppina G; Colonna-Romano, Giuseppina G; Lio, Domenico D; Ruvolo, Giovanni G; Balistreri, Carmela R CR
Publication Date: 2014

Variant appearance in text: rs334348
PubMed Link: 24707114
Variant Present in the following documents:
  • Main text
  • MI2014-165758.pdf
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Genetic variants in microRNA target sites of 37 selected cancer-related genes and the risk of cervical cancer.

Plos One
Mi, Yang Y; Wang, Lijuan L; Zong, Lu L; Pei, Meili M; Lu, Qingyang Q; Huang, Pu P
Publication Date: 2014

Variant appearance in text: rs334348
PubMed Link: 24465869
Variant Present in the following documents:
  • Main text
  • pone.0086061.pdf
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SNPs in microRNA binding sites as prognostic and predictive cancer biomarkers.

Critical Reviews In Oncogenesis
Preskill, Carina C; Weidhaas, Joanne B JB
Publication Date: 2013

Variant appearance in text: rs334348
PubMed Link: 23614619
Variant Present in the following documents:
  • Main text
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The role of microRNAs in cancer susceptibility.

Biomed Research International
Iuliano, Rodolfo R; Vismara, Marco Flavio Michele MF; Dattilo, Vincenzo V; Trapasso, Francesco F; Baudi, Francesco F; Perrotti, Nicola N
Publication Date: 2013

Variant appearance in text: rs334348
PubMed Link: 23586049
Variant Present in the following documents:
  • Main text
View BVdb publication page



There is no association between microRNA gene polymorphisms and risk of triple negative breast cancer in a Chinese Han population.

Plos One
Ma, Fei F; Zhang, Ping P; Lin, Dongxin D; Yu, Dianke D; Yuan, Peng P; Wang, Jiayu J; Fan, Yin Y; Xu, Binghe B
Publication Date: 2013

Variant appearance in text: rs334348
PubMed Link: 23555923
Variant Present in the following documents:
  • Main text
  • pone.0060195.pdf
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Mechanistic insights into the role of microRNAs in cancer: influence of nutrient crosstalk.

Frontiers In Genetics
Shah, Manasvi S MS; Davidson, Laurie A LA; Chapkin, Robert S RS
Publication Date: 2012

Variant appearance in text: rs334348
PubMed Link: 23293655
Variant Present in the following documents:
  • Main text
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Debate about TGFBR1 and the susceptibility to colorectal cancer.

World Journal Of Gastrointestinal Oncology
Valle, Laura L
Publication Date: 2012-01-15

Variant appearance in text: rs334348
PubMed Link: 22347533
Variant Present in the following documents:
  • Main text
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Principles of microRNA involvement in human cancers.

Chinese Journal Of Cancer
Ling, Hui H; Zhang, Wei W; Calin, George A GA
Publication Date: 2011-11

Variant appearance in text: rs334348
PubMed Link: 22035854
Variant Present in the following documents:
  • Main text
  • cjc-30-11-739.pdf
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Allelic imbalance of the TGFβR1 is not a major contributor to the genetic predisposition to colorectal cancer.

British Journal Of Cancer
Abadie, C C; Killian, A A; Tinat, J J; Bougeard, M M; Medhaoui, D D; Cailleux, A-F AF; Baert-Desurmont, S S; Frebourg, T T
Publication Date: 2011-04-26

Variant appearance in text: rs334348
PubMed Link: 21522152
Variant Present in the following documents:
  • Main text
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No association between germline allele-specific expression of TGFBR1 and colorectal cancer risk in Caucasian and Ashkenazi populations.

British Journal Of Cancer
Seguí, N N; Stevens, K N KN; Guinó, E E; Rozek, L S LS; Moreno, V R VR; Capellá, G G; Gruber, S B SB; Valle, L L
Publication Date: 2011-02-15

Variant appearance in text: rs334348
PubMed Link: 21224855
Variant Present in the following documents:
  • Main text
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MicroRNA binding site polymorphisms as biomarkers of cancer risk.

Expert Review Of Molecular Diagnostics
Pelletier, Cory C; Weidhaas, Joanne B JB
Publication Date: 2010-09

Variant appearance in text: rs334348
PubMed Link: 20843204
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: rs334348
PubMed Link: 20734064
Variant Present in the following documents:
  • Main text
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Allele-specific expression of TGFBR1 in colon cancer patients.

Carcinogenesis
Tomsic, Jerneja J; Guda, Kishore K; Liyanarachchi, Sandya S; Hampel, Heather H; Natale, Leanna L; Markowitz, Sanford D SD; Tanner, Stephan M SM; de la Chapelle, Albert A
Publication Date: 2010-10

Variant appearance in text: rs334348
PubMed Link: 20705955
Variant Present in the following documents:
  • Main text
  • bgq165.pdf
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Constitutively decreased TGFBR1 allelic expression is a common finding in colorectal cancer and is associated with three TGFBR1 SNPs.

Journal Of Experimental & Clinical Cancer Research : Cr
Pasche, Boris B; Wisinski, Kari B KB; Sadim, Maureen M; Kaklamani, Virginia V; Pennison, Michael J MJ; Zeng, Qinghua Q; Bellam, Naresh N; Zimmerman, Jacquelyn J; Yi, Nengjun N; Zhang, Kui K; Baron, John J; Stram, Daniel O DO; Hayes, M Geoffrey MG
Publication Date: 2010-05-25

Variant appearance in text: rs334348
PubMed Link: 20500843
Variant Present in the following documents:
  • Main text
  • 1756-9966-29-57.pdf
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Single-nucleotide polymorphisms inside microRNA target sites influence tumor susceptibility.

Cancer Research
Nicoloso, Milena S MS; Sun, Hao H; Spizzo, Riccardo R; Kim, Hyunsoo H; Wickramasinghe, Priyankara P; Shimizu, Masayoshi M; Wojcik, Sylwia E SE; Ferdin, Jana J; Kunej, Tanja T; Xiao, Lianchun L; Manoukian, Siranoush S; Secreto, Giorgio G; Ravagnani, Fernando F; Wang, Xuemei X; Radice, Paolo P; Croce, Carlo M CM; Davuluri, Ramana V RV; Calin, George A GA
Publication Date: 2010-04-01

Variant appearance in text: rs334348
PubMed Link: 20332227
Variant Present in the following documents:
  • Main text
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Infrequent detection of germline allele-specific expression of TGFBR1 in lymphoblasts and tissues of colon cancer patients.

Cancer Research
Guda, Kishore K; Natale, Leanna L; Lutterbaugh, James J; Wiesner, Georgia L GL; Lewis, Susan S; Tanner, Stephan M SM; Tomsic, Jerneja J; Valle, Laura L; de la Chapelle, Albert A; Elston, Robert C RC; Willis, Joseph J; Markowitz, Sanford D SD
Publication Date: 2009-06-15

Variant appearance in text: rs334348
PubMed Link: 19509225
Variant Present in the following documents:
  • Main text
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Germline allele-specific expression of TGFBR1 confers an increased risk of colorectal cancer.

Science (New York, N.Y.)
Valle, Laura L; Serena-Acedo, Tarsicio T; Liyanarachchi, Sandya S; Hampel, Heather H; Comeras, Ilene I; Li, Zhongyuan Z; Zeng, Qinghua Q; Zhang, Hong-Tao HT; Pennison, Michael J MJ; Sadim, Maureen M; Pasche, Boris B; Tanner, Stephan M SM; de la Chapelle, Albert A
Publication Date: 2008-09-05

Variant appearance in text: rs334348
PubMed Link: 18703712
Variant Present in the following documents:
  • Main text
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