Publications:

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Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports

Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-10-14

Variant appearance in text: KL: H589H

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM11_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM13_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM2_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM9_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM8_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM3_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM4_ESM.xlsx, sheet 2

View BVdb publication page

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Genetic Polymorphisms and Kidney Stones Around the Globe: A Systematic Review and Meta-Analysis.

Frontiers In Genetics

Mohammadi, Abdolreza A; Shabestari, Alireza Namazi AN; Baghdadabad, Leila Zareian LZ; Khatami, Fatemeh F; Reis, Leonardo Oliveira LO; Pishkuhi, Mahin Ahmadi MA; Kazem Aghamir, Seyed Mohammad SM

Publication Date: 2022

Variant appearance in text: rs564481

PubMed Link: 35846117

Variant Present in the following documents:

• Main text
• fgene-13-913908.pdf

View BVdb publication page

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Association of serum Klotho levels with cancer and cancer mortality: Evidence from National Health and Nutrition Examination Survey.

Cancer Medicine

Qiao, Yating Y; Liu, Fubin F; Peng, Yu Y; Wang, Peng P; Ma, Bing B; Li, Limin L; Si, Changyu C; Wang, Xixuan X; Zhang, Ming M; Song, Fangfang F

Publication Date: 2022-07-16

Variant appearance in text: rs564481

PubMed Link: 35841322

Variant Present in the following documents:

• Main text
• CAM4-12-1922.pdf

View BVdb publication page

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Searching for New Genetic Biomarkers of Axial Spondyloarthritis.

Journal Of Clinical Medicine

Bugaj, Bartosz B; Wielińska, Joanna J; Bogunia-Kubik, Katarzyna K; Świerkot, Jerzy J

Publication Date: 2022-05-20

Variant appearance in text: rs564481

PubMed Link: 35629038

Variant Present in the following documents:

• Main text
• jcm-11-02912.pdf

View BVdb publication page

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MIF rs755622 and IL6 rs1800795 Are Implied in Genetic Susceptibility to End-Stage Renal Disease (ESRD).

Genes

Guarneri, Marco M; Scola, Letizia L; Giarratana, Rosa Maria RM; Bova, Manuela M; Carollo, Caterina C; Vaccarino, Loredana L; Calandra, Leonardo L; Lio, Domenico D; Balistreri, Carmela Rita CR; Cottone, Santina S

Publication Date: 2022-01-25

Variant appearance in text: rs564481

PubMed Link: 35205271

Variant Present in the following documents:

• Main text
• genes-13-00226.pdf

View BVdb publication page

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KL-VS heterozygosity is associated with lower amyloid-dependent tau accumulation and memory impairment in Alzheimer's disease.

Nature Communications

Neitzel, Julia J; Franzmeier, Nicolai N; Rubinski, Anna A; Dichgans, Martin M; Brendel, Matthias M; , ; Malik, Rainer R; Ewers, Michael M

Publication Date: 2021-06-22

Variant appearance in text: rs564481

PubMed Link: 34158479

Variant Present in the following documents:

• Main text
• 41467_2021_Article_23755.pdf

View BVdb publication page

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Molecular Mechanisms Associated with ROS-Dependent Angiogenesis in Lower Extremity Artery Disease.

Antioxidants (Basel, Switzerland)

Hutchings, Greg G; Kruszyna, Łukasz Ł; Nawrocki, Mariusz J MJ; Strauss, Ewa E; Bryl, Rut R; Spaczyńska, Julia J; Perek, Bartłomiej B; Jemielity, Marek M; Mozdziak, Paul P; Kempisty, Bartosz B; Nowicki, Michał M; Krasiński, Zbigniew Z

Publication Date: 2021-05-07

Variant appearance in text: rs564481

PubMed Link: 34066926

Variant Present in the following documents:

• Main text
• antioxidants-10-00735.pdf

View BVdb publication page

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Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics

Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F

Publication Date: 2021

Variant appearance in text: KL: 1767C>T; H589H; rs564481

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.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: KL: His589His; rs564481

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Klotho (rs1207568 and rs564481) gene variants and colorectal cancer risk.

The Turkish Journal Of Gastroenterology : The Official Journal Of Turkish Society Of Gastroenterology

Kamal, Asmaa A; Salama, Mohamed M; Kamal, Amr A; Mohsen, Ahmed A; Siam, Ibrahem I

Publication Date: 2020-07

Variant appearance in text: rs564481

PubMed Link: 32897222

Variant Present in the following documents:

• Main text

View BVdb publication page

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The association between Single Nucleotide Polymorphisms of Klotho Gene and Mortality in Elderly Men: The MrOS Sweden Study.

Scientific Reports

Wu, Ping-Hsun PH; Westerberg, Per-Anton PA; Kindmark, Andreas A; Tivesten, Åsa Å; Karlsson, Magnus K MK; Mellström, Dan D; Ohlsson, Claes C; Fellström, Bengt B; Linde, Torbjörn T; Ljunggren, Östen Ö

Publication Date: 2020-06-24

Variant appearance in text: rs564481

PubMed Link: 32581247

Variant Present in the following documents:

• Main text
• 41598_2020_Article_66517.pdf

View BVdb publication page

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KLOTHO polymorphisms and age-related outcomes in community-dwelling older subjects: The São Paulo Ageing & Health (SPAH) Study.

Scientific Reports

Pereira, Rosa Maria R RMR; Freitas, Thiago Quadrante TQ; Franco, André Silva AS; Takayama, Liliam L; Caparbo, Valeria F VF; Domiciano, Diogo S DS; Machado, Luana G LG; Figueiredo, Camille P CP; Menezes, Paulo R PR; Onuchic, Luiz Fernando LF; de Castro, Isac I

Publication Date: 2020-05-22

Variant appearance in text: rs564481

PubMed Link: 32444684

Variant Present in the following documents:

• Main text
• 41598_2020_Article_65441.pdf

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: KL: 1767C>T; H589H; rs564481

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: KL: 1767C>T; His589=; rs564481

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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Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports

Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA

Publication Date: 2019-10-09

Variant appearance in text: KL: H589H; rs564481

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM11_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM8_ESM.xlsx, sheet 1

View BVdb publication page

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The goddess who spins the thread of life: Klotho, psychiatric stress, and accelerated aging.

Brain, Behavior, And Immunity

Wolf, Erika J EJ; Morrison, Filomene G FG; Sullivan, Danielle R DR; Logue, Mark W MW; Guetta, Rachel E RE; Stone, Annjanette A; Schichman, Steven A SA; McGlinchey, Regina E RE; Milberg, William P WP; Miller, Mark W MW

Publication Date: 2019-08

Variant appearance in text: rs564481

PubMed Link: 30872092

Variant Present in the following documents:

• Main text

View BVdb publication page

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Association of Klotho gene polymorphism with hypertension and coronary artery disease in an Iranian population.

Bmc Cardiovascular Disorders

Akbari, Hamed H; Asadikaram, Gholamreza G; Aria, Hamid H; Fooladi, Saba S; Vakili, Sina S; Masoumi, Mohammad M

Publication Date: 2018-12-14

Variant appearance in text: rs564481

PubMed Link: 30547758

Variant Present in the following documents:

• Main text
• 12872_2018_Article_971.pdf

View BVdb publication page

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Multiple genetic mutations caused by NKX6.3 depletion contribute to gastric tumorigenesis.

Scientific Reports

Yoon, Jung Hwan JH; Kim, Olga O; Eun, Jung Woo JW; Choi, Sung Sook SS; Ashktorab, Hassan H; Smoot, Duane T DT; Nam, Suk Woo SW; Park, Won Sang WS

Publication Date: 2018-12-04

Variant appearance in text: rs564481

PubMed Link: 30514953

Variant Present in the following documents:

• 41598_2018_35733_MOESM2_ESM.xlsx, 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: KL: H589H; rs564481

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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Deleterious coding variants in multi-case families with non-syndromic cleft lip and/or palate phenotypes.

Scientific Reports

Pengelly, Reuben J RJ; Arias, Liliana L; Martínez, Julio J; Upstill-Goddard, Rosanna R; Seaby, Eleanor G EG; Gibson, Jane J; Ennis, Sarah S; Collins, Andrew A; Briceño, Ignacio I

Publication Date: 2016-07-26

Variant appearance in text: KL: H589H; rs564481

PubMed Link: 27456059

Variant Present in the following documents:

• srep30457-s2.xls, sheet 2
• srep30457-s2.xls, sheet 1

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: KL: H589H; rs564481

PubMed Link: 26549847

Variant Present in the following documents:

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

View BVdb publication page

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Genetic Variants in KLOTHO Associate With Cognitive Function in the Oldest Old Group.

The Journals Of Gerontology. Series A, Biological Sciences And Medical Sciences

Mengel-From, Jonas J; Soerensen, Mette M; Nygaard, Marianne M; McGue, Matt M; Christensen, Kaare K; Christiansen, Lene L

Publication Date: 2016-09

Variant appearance in text: KL: H589H; rs564481

PubMed Link: 26405063

Variant Present in the following documents:

• Main text

View BVdb publication page

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Significant roles of anti-aging protein klotho and fibroblast growth factor23 in cardiovascular disease.

Journal Of Geriatric Cardiology : Jgc

Ding, Hong-Ying HY; Ma, Hou-Xun HX

Publication Date: 2015-07

Variant appearance in text: rs564481

PubMed Link: 26347327

Variant Present in the following documents:

• Main text

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: KL: H589H; rs564481

PubMed Link: 25944692

Variant Present in the following documents:

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

View BVdb publication page

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Renal function and klotho gene polymorphisms among Uygur and Kazak populations in Xinjiang, China.

Medical Science Monitor : International Medical Journal Of Experimental And Clinical Research

Xu, Xinjuan X; Liang, Xiaohui X; Hu, Guangmei G; Zhang, Junshi J; Lei, Hong H

Publication Date: 2015-01-05

Variant appearance in text: rs564481

PubMed Link: 25556925

Variant Present in the following documents:

• Main text
• medscimonit-21-44.pdf

View BVdb publication page

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Whole exome sequencing of a single osteosarcoma case--integrative analysis with whole transcriptome RNA-seq data.

Human Genomics

Reimann, Ene E; Kõks, Sulev S; Ho, Xuan Dung XD; Maasalu, Katre K; Märtson, Aare A

Publication Date: 2014-12-11

Variant appearance in text: KL: H589H

PubMed Link: 25496518

Variant Present in the following documents:

• 40246_2014_20_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Whole-genome sequencing of the world's oldest people.

Plos One

Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK

Publication Date: 2014

Variant appearance in text: KL: H589H; rs564481

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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Exome sequencing is an efficient tool for variant late-infantile neuronal ceroid lipofuscinosis molecular diagnosis.

Plos One

Patiño, Liliana Catherine LC; Battu, Rajani R; Ortega-Recalde, Oscar O; Nallathambi, Jeyabalan J; Anandula, Venkata Ramana VR; Renukaradhya, Umashankar U; Laissue, Paul P

Publication Date: 2014

Variant appearance in text: KL: H589H

PubMed Link: 25333361

Variant Present in the following documents:

• pone.0109576.s001.xls, sheet 3

View BVdb publication page

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TBX1 mutation identified by exome sequencing in a Japanese family with 22q11.2 deletion syndrome-like craniofacial features and hypocalcemia.

Plos One

Ogata, Tsutomu T; Niihori, Tetsuya T; Tanaka, Noriko N; Kawai, Masahiko M; Nagashima, Takeshi T; Funayama, Ryo R; Nakayama, Keiko K; Nakashima, Shinichi S; Kato, Fumiko F; Fukami, Maki M; Aoki, Yoko Y; Matsubara, Yoichi Y

Publication Date: 2014

Variant appearance in text: rs564481

PubMed Link: 24637876

Variant Present in the following documents:

• pone.0091598.s006.pdf

View BVdb publication page

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Candidate gene analysis of arteriovenous fistula failure in hemodialysis patients.

Clinical Journal Of The American Society Of Nephrology : Cjasn

Verschuren, Jeffrey J W JJ; Ocak, Gurbey G; Dekker, Friedo W FW; Rabelink, Ton J TJ; Jukema, J Wouter JW; Rotmans, Joris I JI

Publication Date: 2013-08

Variant appearance in text: rs564481

PubMed Link: 23559680

Variant Present in the following documents:

• Main text

View BVdb publication page

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Whole genome sequences of a male and female supercentenarian, ages greater than 114 years.

Frontiers In Genetics

Sebastiani, Paola P; Riva, Alberto A; Montano, Monty M; Pham, Phillip P; Torkamani, Ali A; Scherba, Eugene E; Benson, Gary G; Milton, Jacqueline N JN; Baldwin, Clinton T CT; Andersen, Stacy S; Schork, Nicholas J NJ; Steinberg, Martin H MH; Perls, Thomas T TT

Publication Date: 2011

Variant appearance in text: rs564481

PubMed Link: 22303384

Variant Present in the following documents:

• Main text
• fgene-02-00090.pdf

View BVdb publication page

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Klotho locus, metabolic traits, and serum hemoglobin in hospitalized older patients: a genetic association analysis.

Age (Dordrecht, Netherlands)

Paroni, Giulia G; Seripa, Davide D; Panza, Francesco F; Addante, Filomena F; Copetti, Massimiliano M; D'Onofrio, Grazia G; Pellegrini, Fabio F; Fontana, Luigi L; Pilotto, Alberto A

Publication Date: 2012-08

Variant appearance in text: rs564481

PubMed Link: 21695423

Variant Present in the following documents:

• Main text

View BVdb publication page

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Association of polymorphisms in the klotho gene with severity of non-diabetic ESRD in African Americans.

Nephrology, Dialysis, Transplantation : Official Publication Of The European Dialysis And Transplant Association - European Renal Association

Bostrom, Meredith A MA; Hicks, Pamela J PJ; Lu, Lingyi L; Langefeld, Carl D CD; Freedman, Barry I BI; Bowden, Donald W DW

Publication Date: 2010-10

Variant appearance in text: rs564481

PubMed Link: 20466664

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic variation in healthy oldest-old.

Plos One

Halaschek-Wiener, Julius J; Amirabbasi-Beik, Mahsa M; Monfared, Nasim N; Pieczyk, Markus M; Sailer, Christian C; Kollar, Anita A; Thomas, Ruth R; Agalaridis, Georgios G; Yamada, So S; Oliveira, Lisa L; Collins, Jennifer A JA; Meneilly, Graydon G; Marra, Marco A MA; Madden, Kenneth M KM; Le, Nhu D ND; Connors, Joseph M JM; Brooks-Wilson, Angela R AR

Publication Date: 2009-08-14

Variant appearance in text: rs564481

PubMed Link: 19680556

Variant Present in the following documents:

• pone.0006641.s001.xls, sheet 1

View BVdb publication page

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