Varaico: Literature-Extracted Genetic Variants

Gene:HAND2
Variant:p.S65I
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HAND2

NM_021973.3:p.S65I

Associated Papers

SOX7 loss-of-function variation as a cause of familial congenital heart disease.

Huang RT et al.

American Journal of Translational Research, 2022

Haploinsufficiency of the basic helix-loop-helix transcription factor HAND2 causes congenital heart defects.

Cohen ASA et al.

American Journal of Medical Genetics. Part A, 2020

An update on the molecular diagnosis of congenital heart disease: focus on loss-of-function mutations.

Li YJ et al.

Expert Review of Molecular Diagnostics, 2017

A HAND2 Loss-of-Function Mutation Causes Familial Ventricular Septal Defect and Pulmonary Stenosis.

Sun YM et al.

G3 (bethesda, Md.), 2016

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."