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: ABCA1: 1892+24T>A; rs4743763

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: rs4743763

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

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: ABCA1: 1892+24T>A; rs4743763

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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Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.

Bmc Medical Genomics

Dron, Jacqueline S JS; Wang, Jian J; McIntyre, Adam D AD; Iacocca, Michael A MA; Robinson, John F JF; Ban, Matthew R MR; Cao, Henian H; Hegele, Robert A RA

Publication Date: 2020-02-10

Variant appearance in text: ABCA1: 1892+24T>A

PubMed Link: 32041611

Variant Present in the following documents:

• 12920_2020_669_MOESM1_ESM.xlsx, sheet 3

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: rs4743763

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Associations of Genetic Variations in ABCA1 and Lifestyle Factors with Coronary Artery Disease in a Southern Chinese Population with Dyslipidemia: A Nested Case-Control Study.

International Journal Of Environmental Research And Public Health

Zhao, Tian-Yu TY; Lei, Song S; Huang, Liu L; Wang, Yi-Nan YN; Wang, Xiao-Ni XN; Zhou, Ping-Pu PP; Xu, Xiao-Jun XJ; Zhang, Long L; Xu, Liang-Wen LW; Yang, Lei L

Publication Date: 2019-03-04

Variant appearance in text: rs4743763

PubMed Link: 30836684

Variant Present in the following documents:

• Main text
• ijerph-16-00786.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: ABCA1: 1892+24T>A; rs4743763

PubMed Link: 30319441

Variant Present in the following documents:

• Table_7.xlsx, sheet 1
• Table_5.xlsx, sheet 1
• Table_6.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: rs4743763

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

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3'UTR Polymorphism in ACSL1 Gene Correlates with Expression Levels and Poor Clinical Outcome in Colon Cancer Patients.

Plos One

Vargas, Teodoro T; Moreno-Rubio, Juan J; Herranz, Jesús J; Cejas, Paloma P; Molina, Susana S; Mendiola, Marta M; Burgos, Emilio E; Custodio, Ana B AB; De Miguel, María M; Martín-Hernández, Roberto R; Reglero, Guillermo G; Feliu, Jaime J; Ramírez de Molina, Ana A

Publication Date: 2016

Variant appearance in text: rs4743763

PubMed Link: 27992526

Variant Present in the following documents:

• Main text
• pone.0168423.pdf

View BVdb publication page

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Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project.

Plos Genetics

Lettre, Guillaume G; Palmer, Cameron D CD; Young, Taylor T; Ejebe, Kenechi G KG; Allayee, Hooman H; Benjamin, Emelia J EJ; Bennett, Franklyn F; Bowden, Donald W DW; Chakravarti, Aravinda A; Dreisbach, Al A; Farlow, Deborah N DN; Folsom, Aaron R AR; Fornage, Myriam M; Forrester, Terrence T; Fox, Ervin E; Haiman, Christopher A CA; Hartiala, Jaana J; Harris, Tamara B TB; Hazen, Stanley L SL; Heckbert, Susan R SR; Henderson, Brian E BE; Hirschhorn, Joel N JN; Keating, Brendan J BJ; Kritchevsky, Stephen B SB; Larkin, Emma E; Li, Mingyao M; Rudock, Megan E ME; McKenzie, Colin A CA; Meigs, James B JB; Meng, Yang A YA; Mosley, Tom H TH; Newman, Anne B AB; Newton-Cheh, Christopher H CH; Paltoo, Dina N DN; Papanicolaou, George J GJ; Patterson, Nick N; Post, Wendy S WS; Psaty, Bruce M BM; Qasim, Atif N AN; Qu, Liming L; Rader, Daniel J DJ; Redline, Susan S; Reilly, Muredach P MP; Reiner, Alexander P AP; Rich, Stephen S SS; Rotter, Jerome I JI; Liu, Yongmei Y; Shrader, Peter P; Siscovick, David S DS; Tang, W H Wilson WH; Taylor, Herman A HA; Tracy, Russell P RP; Vasan, Ramachandran S RS; Waters, Kevin M KM; Wilks, Rainford R; Wilson, James G JG; Fabsitz, Richard R RR; Gabriel, Stacey B SB; Kathiresan, Sekar S; Boerwinkle, Eric E

Publication Date: 2011-02-10

Variant appearance in text: rs4743763

PubMed Link: 21347282

Variant Present in the following documents:

• Main text
• pgen.1001300.pdf

View BVdb publication page

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