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: rs3924519

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: rs3924519

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.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: rs3924519

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM2_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Mediation analysis in a case-control study when the mediator is a censored variable.

Statistics In Medicine

Wang, Jian J; Ning, Jing J; Shete, Sanjay S

Publication Date: 2019-03-30

Variant appearance in text: rs3924519

PubMed Link: 30421436

Variant Present in the following documents:

• Main text

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: rs3924519

PubMed Link: 30319441

Variant Present in the following documents:

• Table_7.xlsx, sheet 1
• Table_5.xlsx, sheet 1

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: rs3924519

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

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Systematic evaluation of apoptotic pathway gene polymorphisms and lung cancer risk.

Carcinogenesis

Lin, Jie J; Lu, Charles C; Stewart, David J DJ; Gu, Jian J; Huang, Maosheng M; Chang, David W DW; Lippman, Scott M SM; Wu, Xifeng X

Publication Date: 2012-09

Variant appearance in text: rs3924519

PubMed Link: 22665367

Variant Present in the following documents:

• Main text

View BVdb publication page

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TRAIL/TRAIL receptor system and susceptibility to multiple sclerosis.

Plos One

López-Gómez, Carlos C; Fernández, Oscar O; García-León, Juan Antonio JA; Pinto-Medel, María Jesús MJ; Oliver-Martos, Begoña B; Ortega-Pinazo, Jesús J; Suardíaz, Margarita M; García-Trujillo, Lucía L; Guijarro-Castro, Cristina C; Benito-León, Julián J; Prat, Isidro I; Varadé, Jezabel J; Álvarez-Lafuente, Roberto R; Urcelay, Elena E; Leyva, Laura L

Publication Date: 2011

Variant appearance in text: rs3924519

PubMed Link: 21814551

Variant Present in the following documents:

• Main text
• pone.0021766.pdf

View BVdb publication page

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