Varaico: Literature-Extracted Genetic Variants

Gene:NKX2-5
Variant:p.A88fs
Back to variants list

NKX2-5

NM_004387.4:p.A88fs

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

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

Molecular genetics of congenital atrial septal defects.

Posch MG et al.

Clinical Research in Cardiology : Official Journal of the German Cardiac Society, 2010

Familial congenital heart disease, progressive atrioventricular block and the cardiac homeobox transcription factor gene NKX2.5: identification of a novel mutation.

König K et al.

Clinical Research in Cardiology : Official Journal of the German Cardiac Society, 2006

Phenotypes with GATA4 or NKX2.5 mutations in familial atrial septal defect.

Hirayama-Yamada K et al.

American Journal of Medical Genetics. Part A, 2005

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."