Publications:

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Sex Differences in the Association between Risk of Anterior Cruciate Ligament Rupture and COL5A1 Polymorphisms in Elite Footballers.

Genes

Rodas, Gil G; Cáceres, Alejandro A; Ferrer, Eva E; Balagué-Dobón, Laura L; Osaba, Lourdes L; Lucia, Alejandro A; González, Juan R JR

Publication Date: 2022-12-22

Variant appearance in text: rs13946

PubMed Link: 36672775

Variant Present in the following documents:

• Main text
• genes-14-00033.pdf

View BVdb publication page

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Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem

Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS

Publication Date: 2022-11

Variant appearance in text: rs13946

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

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Beneficial effects of mifepristone treatment in breast cancer patients selected by the progesterone receptor isoform ratio: Results from the MIPRA trial.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

Elía, Andrés A; Saldain, Leo L; Vanzulli, Silvia I SI; Helguero, Luisa A LA; Lamb, Caroline A CA; Fabris, Victoria V; Pataccini, Gabriela G; Martínez-Vazquez, Paula P; Burruchaga, Javier J; Caillet-Bois, Ines I; Spengler, Eunice E; Acosta Haab, Gabriela G; Liguori, Marcos M; Castets, Alejandra A; Lovisi, Silvia S; Abascal, María F MF; Novaro, Virginia V; Sánchez, Jana J; Muñoz, Javier J; Belizán, Jose M JM; Abba, Martín C MC; Gass, Hugo H; Rojas, Paola P; Lanari, Claudia C

Publication Date: 2022-10-21

Variant appearance in text: rs13946

PubMed Link: 36269797

Variant Present in the following documents:

• ccr-22-2060_supplementary_table_s5_suppts5.xlsx, sheet 1

View BVdb publication page

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Tendon and Ligament Genetics: How Do They Contribute to Disease and Injury? A Narrative Review.

Life (Basel, Switzerland)

Ribbans, William J WJ; September, Alison V AV; Collins, Malcolm M

Publication Date: 2022-04-29

Variant appearance in text: rs13946

PubMed Link: 35629331

Variant Present in the following documents:

• life-12-00663.pdf

View BVdb publication page

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Association of COL5A1 gene polymorphisms and musculoskeletal soft tissue injuries: a meta-analysis based on 21 observational studies.

Journal Of Orthopaedic Surgery And Research

Guo, Rui R; Ji, Zhe Z; Gao, Shutao S; Aizezi, Aihaiti A; Fan, Yong Y; Wang, Zhigang Z; Ning, Kai K

Publication Date: 2022-03-03

Variant appearance in text: rs13946

PubMed Link: 35241120

Variant Present in the following documents:

• Main text
• 13018_2022_Article_3020.pdf

View BVdb publication page

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Age-Related Alterations of Hyaluronan and Collagen in Extracellular Matrix of the Muscle Spindles.

Journal Of Clinical Medicine

Fan, Chenglei C; Pirri, Carmelo C; Fede, Caterina C; Guidolin, Diego D; Biz, Carlo C; Petrelli, Lucia L; Porzionato, Andrea A; Macchi, Veronica V; De Caro, Raffaele R; Stecco, Carla C

Publication Date: 2021-12-24

Variant appearance in text: rs13946

PubMed Link: 35011824

Variant Present in the following documents:

• Main text
• jcm-11-00086.pdf

View BVdb publication page

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Age-Related Alterations of Hyaluronan and Collagen in Extracellular Matrix of the Muscle Spindles.

Journal Of Clinical Medicine

Fan, Chenglei C; Pirri, Carmelo C; Fede, Caterina C; Guidolin, Diego D; Biz, Carlo C; Petrelli, Lucia L; Porzionato, Andrea A; Macchi, Veronica V; De Caro, Raffaele R; Stecco, Carla C

Publication Date: 2021-12-24

Variant appearance in text: rs13946

PubMed Link: 35011824

Variant Present in the following documents:

• Main text
• jcm-11-00086.pdf

View BVdb publication page

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COL5A1 RS12722 Is Associated with Temporomandibular Joint Anterior Disc Displacement without Reduction in Polish Caucasians.

Cells

Dalewski, Bartosz B; Białkowska, Katarzyna K; Pałka, Łukasz Ł; Jakubowska, Anna A; Kiczmer, Paweł P; Sobolewska, Ewa E

Publication Date: 2021-09-14

Variant appearance in text: rs13946

PubMed Link: 34572072

Variant Present in the following documents:

• Main text
• cells-10-02423.pdf

View BVdb publication page

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Effects of Genetic Variation on Endurance Performance, Muscle Strength, and Injury Susceptibility in Sports: A Systematic Review.

Frontiers In Physiology

Appel, Milena M; Zentgraf, Karen K; Krüger, Karsten K; Alack, Katharina K

Publication Date: 2021

Variant appearance in text: rs13946

PubMed Link: 34366884

Variant Present in the following documents:

• Main text
• fphys-12-694411.pdf

View BVdb publication page

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Interactions between Gene Variants within the COL1A1 and COL5A1 Genes and Musculoskeletal Injuries in Physically Active Caucasian.

Genes

Leźnicka, Katarzyna K; Żyżniewska-Banaszak, Ewelina E; Gębska, Magdalena M; Machoy-Mokrzyńska, Anna A; Krajewska-Pędzik, Anna A; Maciejewska-Skrendo, Agnieszka A; Leońska-Duniec, Agata A

Publication Date: 2021-07-09

Variant appearance in text: rs13946

PubMed Link: 34356072

Variant Present in the following documents:

• Main text
• genes-12-01056.pdf

View BVdb publication page

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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: rs13946

PubMed Link: 34051734

Variant Present in the following documents:

• 12885_2021_8370_MOESM15_ESM.xlsx, sheet 1

View BVdb publication page

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Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology

Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA

Publication Date: 2021

Variant appearance in text: rs13946

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Detection of epistasis between ACTN3 and SNAP-25 with an insight towards gymnastic aptitude identification.

Plos One

Płóciennik, Łukasz Andrzej ŁA; Zaucha, Jan J; Zaucha, Jan Maciej JM; Łukaszuk, Krzysztof K; Jóźwicki, Marek M; Płóciennik, Magdalena M; Cięszczyk, Paweł P

Publication Date: 2020

Variant appearance in text: rs13946

PubMed Link: 32866209

Variant Present in the following documents:

• Main text
• pone.0237808.pdf

View BVdb publication page

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Identification of a nonsense mutation in TNNI3K associated with cardiac conduction disease.

Journal Of Clinical Laboratory Analysis

Liu, Jiang J; Liu, Da D; Li, Muzheng M; Wu, Keke K; Liu, Na N; Zhao, Chenyu C; Shi, Xiaoliu X; Liu, Qiming Q

Publication Date: 2020-09

Variant appearance in text: rs13946

PubMed Link: 32529721

Variant Present in the following documents:

• JCLA-34-e23418-s003.xls, sheet 1

View BVdb publication page

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Influence of genetic factors in elbow tendon pathology: a case-control study.

Scientific Reports

Alakhdar Mohmara, Yasser Y; Cook, Jill J; Benítez-Martínez, Josep C JC; McPeek, Emily R ER; Aguilar, Antonio Alberola AA; Olivas, Emilio Soria ES; Hernandez-Sanchez, Sergio S

Publication Date: 2020-04-16

Variant appearance in text: rs13946

PubMed Link: 32300121

Variant Present in the following documents:

• Main text
• 41598_2020_Article_63030.pdf

View BVdb publication page

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Correlations Between the Genetic Variations in the COL1A1, COL5A1, COL12A1, and β-fibrinogen Genes and Anterior Cruciate Ligament Injury in Chinese Patientsa.

Journal Of Athletic Training

Zhao, Daohong D; Zhang, Qi Q; Lu, Qingnan Q; Hong, Chen C; Luo, Tinghu T; Duan, Qihui Q; Shu, Songhua S; Lv, Jiang J; Zhao, Wenchuan W

Publication Date: 2020-05

Variant appearance in text: rs13946

PubMed Link: 32239963

Variant Present in the following documents:

• Main text

View BVdb publication page

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Next-generation sequencing identified novel Desmoplakin frame-shift variant in patients with Arrhythmogenic cardiomyopathy.

Bmc Cardiovascular Disorders

Lin, Xiaoping X; Ma, Yuankun Y; Cai, Zhejun Z; Wang, Qiyuan Q; Wang, Lihua L; Huo, Zhaoxia Z; Hu, Dan D; Wang, Jian'an J; Xiang, Meixiang M

Publication Date: 2020-02-11

Variant appearance in text: rs13946

PubMed Link: 32046637

Variant Present in the following documents:

• 12872_2020_1369_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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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: rs13946

PubMed Link: 31640808

Variant Present in the following documents:

• 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Tendon and Ligament Injuries in Elite Rugby: The Potential Genetic Influence.

Sports (Basel, Switzerland)

Brazier, Jon J; Antrobus, Mark M; Stebbings, Georgina K GK; Day, Stephen H SH; Heffernan, Shane M SM; Cross, Matthew J MJ; Williams, Alun G AG

Publication Date: 2019-06-04

Variant appearance in text: rs13946

PubMed Link: 31167482

Variant Present in the following documents:

• Main text
• sports-07-00138.pdf

View BVdb publication page

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Genetics of rotator cuff tears: no association of col5a1 gene in a case-control study.

Bmc Medical Genetics

Longo, Umile Giuseppe UG; Margiotti, Katia K; Petrillo, Stefano S; Rizzello, Giacomo G; Fusilli, Caterina C; Maffulli, Nicola N; De Luca, Alessandro A; Denaro, Vincenzo V

Publication Date: 2018-12-20

Variant appearance in text: rs13946

PubMed Link: 30572822

Variant Present in the following documents:

• Main text
• 12881_2018_Article_727.pdf

View BVdb publication page

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Association of COL5A1 gene polymorphisms and risk of tendon-ligament injuries among Caucasians: a meta-analysis.

Sports Medicine - Open

Pabalan, Noel N; Tharabenjasin, Phuntila P; Phababpha, Suphawadee S; Jarjanazi, Hamdi H

Publication Date: 2018-10-22

Variant appearance in text: rs13946

PubMed Link: 30350114

Variant Present in the following documents:

• Main text
• 40798_2018_Article_161.pdf

View BVdb publication page

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Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology

Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P

Publication Date: 2018

Variant appearance in text: rs13946

PubMed Link: 30319441

Variant Present in the following documents:

• Table_7.xlsx, sheet 1

View BVdb publication page

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Interactions between COL5A1 Gene and Risk of the Anterior Cruciate Ligament Rupture.

Journal Of Human Kinetics

Lulińska-Kuklik, Ewelina E; Rahim, Masouda M; Domańska-Senderowska, Daria D; Ficek, Krzysztof K; Michałowska-Sawczyn, Monika M; Moska, Waldemar W; Kaczmarczyk, Mariusz M; Brzeziański, Michał M; Brzeziańska-Lasota, Ewa E; Cięszczyk, Paweł P; September, Alison V AV

Publication Date: 2018-06

Variant appearance in text: rs13946

PubMed Link: 29922378

Variant Present in the following documents:

• Main text
• hukin-62-065.pdf

View BVdb publication page

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Association between polymorphism rs12722 in COL5A1 and musculoskeletal soft tissue injuries: a systematic review and meta-analysis.

Oncotarget

Lv, Zheng-Tao ZT; Gao, Shu-Tao ST; Cheng, Peng P; Liang, Shuang S; Yu, Si-Yi SY; Yang, Qing Q; Chen, An-Min AM

Publication Date: 2018-03-16

Variant appearance in text: rs13946

PubMed Link: 29632650

Variant Present in the following documents:

• Main text
• oncotarget-09-15365.pdf

View BVdb publication page

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Proteogenomic analysis prioritises functional single nucleotide variants in cancer samples.

Oncotarget

Ma, Shiyong S; Menon, Ranjeeta R; Poulos, Rebecca C RC; Wong, Jason W H JWH

Publication Date: 2017-11-10

Variant appearance in text: rs13946

PubMed Link: 29221171

Variant Present in the following documents:

• oncotarget-08-95841-s002.xlsx, sheet 4

View BVdb publication page

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Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation

Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H

Publication Date: 2017

Variant appearance in text: rs13946

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

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Identification of EML4-ALK as an alternative fusion gene in epithelioid inflammatory myofibroblastic sarcoma.

Orphanet Journal Of Rare Diseases

Jiang, Quan Q; Tong, Han-Xing HX; Hou, Ying-Yong YY; Zhang, Yong Y; Li, Jing-Lei JL; Zhou, Yu-Hong YH; Xu, Jing J; Wang, Jiong-Yuan JY; Lu, Wei-Qi WQ

Publication Date: 2017-05-23

Variant appearance in text: rs13946

PubMed Link: 28535796

Variant Present in the following documents:

• 13023_2017_647_MOESM1_ESM.xlsx, sheet 4

View BVdb publication page

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Biomedical Risk Factors of Achilles Tendinopathy in Physically Active People: a Systematic Review.

Sports Medicine - Open

Kozlovskaia, Maria M; Vlahovich, Nicole N; Ashton, Kevin J KJ; Hughes, David C DC

Publication Date: 2017-12

Variant appearance in text: rs13946

PubMed Link: 28523640

Variant Present in the following documents:

• Main text
• 40798_2017_Article_87.pdf

View BVdb publication page

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Genetic Variants and Anterior Cruciate Ligament Rupture: A Systematic Review.

Sports Medicine (Auckland, N.Z.)

Kaynak, Mustafa M; Nijman, Frank F; van Meurs, Joyce J; Reijman, Max M; Meuffels, Duncan E DE

Publication Date: 2017-08

Variant appearance in text: rs13946

PubMed Link: 28102489

Variant Present in the following documents:

• Main text
• 40279_2017_Article_678.pdf

View BVdb publication page

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Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.

Stem Cell Reports

Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC

Publication Date: 2015-12-08

Variant appearance in text: rs13946

PubMed Link: 26549847

Variant Present in the following documents:

• mmc3.xlsx, sheet 3
• mmc3.xlsx, sheet 1
• mmc3.xlsx, sheet 2

View BVdb publication page

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The Variants Within the COL5A1 Gene are Associated with Reduced Risk of Anterior Cruciate Ligament Injury in Skiers.

Journal Of Human Kinetics

Stępień-Słodkowska, Marta M; Ficek, Krzysztof K; Kaczmarczyk, Mariusz M; Maciejewska-Karłowska, Agnieszka A; Sawczuk, Marek M; Leońska-Duniec, Agata A; Stępiński, Miłosz M; Ziętek, Paweł P; Król, Paweł P; Chudecka, Monika M; Cięszczyk, Paweł P

Publication Date: 2015-03-29

Variant appearance in text: rs13946

PubMed Link: 25964814

Variant Present in the following documents:

• Main text
• jhk-45-103.pdf

View BVdb publication page

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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: rs13946

PubMed Link: 25944692

Variant Present in the following documents:

• oncotarget-06-15375-s005.xlsx, sheet 2

View BVdb publication page

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The genetics of sports injuries and athletic performance.

Muscles, Ligaments And Tendons Journal

Maffulli, Nicola N; Margiotti, Katia K; Longo, Umile Giuseppe UG; Loppini, Mattia M; Fazio, Vito Michele VM; Denaro, Vincenzo V

Publication Date: 2013-08-11

Variant appearance in text: rs13946

PubMed Link: 24367777

Variant Present in the following documents:

• Main text

View BVdb publication page

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Collagen gene variants previously associated with anterior cruciate ligament injury risk are also associated with joint laxity.

Sports Health

Bell, Richard D RD; Shultz, Sandra J SJ; Wideman, Laurie L; Henrich, Vincent C VC

Publication Date: 2012-07

Variant appearance in text: rs13946

PubMed Link: 23016102

Variant Present in the following documents:

• Main text
• 10.1177_1941738112446684.pdf

View BVdb publication page

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Genome-wide survey of allele-specific splicing in humans.

Bmc Genomics

Nembaware, Victoria V; Lupindo, Bukiwe B; Schouest, Katherine K; Spillane, Charles C; Scheffler, Konrad K; Seoighe, Cathal C

Publication Date: 2008-06-02

Variant appearance in text: rs13946

PubMed Link: 18518984

Variant Present in the following documents:

• Main text
• 1471-2164-9-265.pdf

View BVdb publication page

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Tendon and ligament injuries: the genetic component.

British Journal Of Sports Medicine

September, Alison V AV; Schwellnus, Martin P MP; Collins, Malcolm M

Publication Date: 2007-04

Variant appearance in text: rs13946

PubMed Link: 17261551

Variant Present in the following documents:

• Main text

View BVdb publication page

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