Varaico: Literature-Extracted Genetic Variants

Gene:NKX2-5
Variant:p.A6V
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NKX2-5

NM_004387.4:p.A6V

Associated Papers

Functional analysis of novel genetic variants of NKX2-5 associated with nonsyndromic congenital heart disease.

Dixit R et al.

American Journal of Medical Genetics. Part A, 2021

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

Insights into the genetic structure of congenital heart disease from human and murine studies on monogenic disorders.

Prendiville T et al.

Cold Spring Harbor Perspectives in Medicine, 2014

Association between ISL1 variants and susceptibility to ventricular septal defect in a Chinese cohort.

Lang J et al.

Molecular Diagnosis & Therapy, 2013

Genetic analysis of essential cardiac transcription factors in 256 patients with non-syndromic congenital heart defects.

Kodo K et al.

Circulation Journal : Official Journal of the Japanese Circulation Society, 2012

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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."