Varaico: Literature-Extracted Genetic Variants

Gene:HAND2
Variant:p.L47P
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HAND2

NM_021973.3:p.L47P

Associated Papers

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

A HAND to TBX5 Explains the Link Between Thalidomide and Cardiac Diseases.

Khalil A et al.

Scientific Reports, 2017

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 novel HAND2 loss-of-function mutation responsible for tetralogy of Fallot.

Lu CX et al.

International Journal of Molecular Medicine, 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."