Varaico: Literature-Extracted Genetic Variants

Gene:NKX2-5
Variant:p.N19S
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NKX2-5

NM_004387.4:p.N19S

Associated Papers

An update on genetic variants of the NKX2-5.

Kolomenski JE et al.

Human Mutation, 2020

A comprehensive in silico analysis, distribution and frequency of human Nkx2-5 mutations; A critical gene in congenital heart disease.

Kalayinia S et al.

Journal of Cardiovascular and Thoracic Research, 2019

Computational modeling suggests impaired interactions between NKX2.5 and GATA4 in individuals carrying a novel pathogenic D16N NKX2.5 mutation.

Mattapally S et al.

Oncotarget, 2018

Genetics of Congenital Heart Defects: The NKX2-5 Gene, a Key Player.

Chung IM et al.

Genes, 2016

Carboxyl terminus of Nkx2.5 impairs its interaction with p300.

Li T et al.

Journal of Molecular Biology, 2007

Somatic NKX2-5 mutations as a novel mechanism of disease in complex congenital heart disease.

Reamon-Buettner SM et al.

Journal of Medical Genetics, 2004

Novel NKX2-5 mutations in diseased heart tissues of patients with cardiac malformations.

Reamon-Buettner SM et al.

The American Journal of Pathology, 2004

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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."