Publications:

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: MZT2A: 319+573T>C; rs6709245

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

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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: MZT2A: 319+573T>C; rs6709245

PubMed Link: 30319441

Variant Present in the following documents:

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

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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: rs6709245

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

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Comprehensive exploration of the effects of miRNA SNPs on monocyte gene expression.

Plos One

Greliche, Nicolas N; Zeller, Tanja T; Wild, Philipp S PS; Rotival, Maxime M; Schillert, Arne A; Ziegler, Andreas A; , ; Deloukas, Panos P; Erdmann, Jeanette J; Hengstenberg, Christian C; Ouwehand, Willem H WH; Samani, Nilesh J NJ; Schunkert, Heribert H; Munzel, Thomas T; Lackner, Karl J KJ; Cambien, François F; Goodall, Alison H AH; Tiret, Laurence L; Blankenberg, Stefan S; Trégouët, David-Alexandre DA

Publication Date: 2012

Variant appearance in text: rs6709245

PubMed Link: 23029284

Variant Present in the following documents:

• Main text
• pone.0045863.pdf

View BVdb publication page