Publications:

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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: rs9501063

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: rs9501063

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Novel germline TRAF3IP3 mutation in a dyad with familial acute B lymphoblastic leukemia.

Cancer Reports (Hoboken, N.J.)

Pommert, Lauren L; Burns, Robert R; Furumo, Quinlan Q; Pulakanti, Kirthi K; Brandt, Jon J; Burke, Michael J MJ; Rao, Sridhar S

Publication Date: 2021-06

Variant appearance in text: POU5F1: 406-70C>G; rs9501063

PubMed Link: 33503336

Variant Present in the following documents:

• CNR2-4-e1335-s003.xlsx, sheet 1

View BVdb publication page

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Fine-mapping of HLA class I and class II genes identified two independent novel variants associated with nasopharyngeal carcinoma susceptibility.

Cancer Medicine

Wang, Tong-Min TM; Zhou, Ting T; He, Yong-Qiao YQ; Xue, Wen-Qiong WQ; Zhang, Jiang-Bo JB; Zheng, Xiao-Hui XH; Li, Xi-Zhao XZ; Zhang, Shao-Dan SD; Zeng, Yi-Xin YX; Jia, Wei-Hua WH

Publication Date: 2018-12

Variant appearance in text: rs9501063

PubMed Link: 30378292

Variant Present in the following documents:

• CAM4-7-6308-s006.xlsx, sheet 1

View BVdb publication page

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Effects of GWAS-associated genetic variants on lncRNAs within IBD and T1D candidate loci.

Plos One

Mirza, Aashiq H AH; Kaur, Simranjeet S; Brorsson, Caroline A CA; Pociot, Flemming F

Publication Date: 2014

Variant appearance in text: rs9501063

PubMed Link: 25144376

Variant Present in the following documents:

• pone.0105723.s013.xlsx, sheet 3

View BVdb publication page

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Host genetics and immune control of HIV-1 infection: fine mapping for the extended human MHC region in an African cohort.

Genes And Immunity

Prentice, H A HA; Pajewski, N M NM; He, D D; Zhang, K K; Brown, E E EE; Kilembe, W W; Allen, S S; Hunter, E E; Kaslow, R A RA; Tang, J J

Publication Date: 2014

Variant appearance in text: rs9501063

PubMed Link: 24784026

Variant Present in the following documents:

• NIHMS580846-supplement-1.xlsx, sheet 3
• NIHMS580846-supplement-1.xlsx, sheet 2

View BVdb publication page

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Effect of a poly(ADP-ribose) polymerase-1 inhibitor against esophageal squamous cell carcinoma cell lines.

Cancer Science

Nasuno, Tomomitsu T; Mimaki, Sachiyo S; Okamoto, Makito M; Esumi, Hiroyasu H; Tsuchihara, Katsuya K

Publication Date: 2014-02

Variant appearance in text: rs9501063

PubMed Link: 24219164

Variant Present in the following documents:

• cas0105-0202-SD2.xlsx, sheet 1

View BVdb publication page

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Genomic regions identified by overlapping clusters of nominally-positive SNPs from genome-wide studies of alcohol and illegal substance dependence.

Plos One

Johnson, Catherine C; Drgon, Tomas T; Walther, Donna D; Uhl, George R GR

Publication Date: 2011

Variant appearance in text: rs9501063

PubMed Link: 21818250

Variant Present in the following documents:

• Main text

View BVdb publication page

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Sequence variation in the human transcription factor gene POU5F1.

Bmc Genetics

Hussain, Shehnaz K SK; Sequerra, Reynaldo R; Bertucci, Caterina C; Hastings, Noel C NC; Rieder, Mark M; Schwartz, Stephen M SM

Publication Date: 2008-02-06

Variant appearance in text: rs9501063

PubMed Link: 18254969

Variant Present in the following documents:

• Main text
• 1471-2156-9-15.pdf

View BVdb publication page

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