Varaico: Literature-Extracted Genetic Variants

Gene:NKX2-5
Variant:p.Q22P
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NKX2-5

NM_004387.4:p.Q22P

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

Novel Point Mutations in the NKX2.5 Gene in Pediatric Patients with Non-Familial Congenital Heart Disease.

Khatami M et al.

Medicina (kaunas, Lithuania), 2018

NKX2-5 mutations in an inbred consanguineous population: genetic and phenotypic diversity.

Abou Hassan OK et al.

Scientific Reports, 2015

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

A novel NKX2-5 mutation in familial ventricular septal defect.

Wang J et al.

International Journal of Molecular Medicine, 2011

Mutational spectrum in the cardiac transcription factor gene NKX2.5 (CSX) associated with congenital heart disease.

Stallmeyer B et al.

Clinical Genetics, 2010

Molecular genetics of congenital atrial septal defects.

Posch MG et al.

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

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

Li T et al.

Journal of Molecular Biology, 2007

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

NKX2.5 mutations in patients with congenital heart disease.

McElhinney DB et al.

Journal of the American College of Cardiology, 2003

[Familial ventricular septal defect].

Rachocka J et al.

Polski Tygodnik Lekarski (warsaw, Poland : 1960), 1988

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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."