Publications:

Genetic Diagnostic Yield and Novel Causal Genes of Congenital Heart Disease.

Frontiers In Genetics

Tan, Meihua M; Wang, Xinrui X; Liu, Hongjie H; Peng, Xiaoyan X; Yang, You Y; Yu, Haifei H; Xu, Liangpu L; Li, Jia J; Cao, Hua H

Publication Date: 2022

Variant appearance in text: SCN5A: 5233G>A; A1745T

PubMed Link: 35910219

Variant Present in the following documents:

• DataSheet1.xlsx, sheet 7

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Exome sequencing identifies a mutation in the ACTN2 gene in a family with idiopathic ventricular fibrillation, left ventricular noncompaction, and sudden death.

Bmc Medical Genetics

Bagnall, Richard D RD; Molloy, Laura K LK; Kalman, Jonathan M JM; Semsarian, Christopher C

Publication Date: 2014-09-16

Variant appearance in text: SCN5A: Ala1745Thr

PubMed Link: 25224718

Variant Present in the following documents:

• Main text

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