Varaico: Literature-Extracted Genetic Variants

Gene:NKX2-5
Variant:p.E109*
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NKX2-5

NM_004387.4:p.E109*

Associated Papers

Genetic Basis of Early Onset Atrial Fibrillation in Patients without Risk Factors.

Rudaka I et al.

Journal of Cardiovascular Development and Disease, 2023

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

Case Report: A Novel NKX2-5 Mutation in a Family With Congenital Heart Defects, Left Ventricular Non-compaction, Conduction Disease, and Sudden Cardiac Death.

Morlanes-Gracia P et al.

Frontiers in Cardiovascular Medicine, 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

A R/K-rich motif in the C-terminal of the homeodomain is required for complete translocating of NKX2.5 protein into nucleus.

Ouyang P et al.

Gene, 2016

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

Chung IM et al.

Genes, 2016

[Readthrough on transcription factor NKX2.5 premature stop codon by tRNA suppressors].

Ouyang P et al.

Yi Chuan = Hereditas, 2015

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

Abou Hassan OK et al.

Scientific Reports, 2015

25742962 (PubMed )
Supplement: srep08848-s1.docx

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

Mutations of the GATA4 and NKX2.5 genes in Chinese pediatric patients with non-familial congenital heart disease.

Peng T et al.

Genetica, 2010

[Novel GATA4 mutations identified in patients with congenital heart disease].

Wang J et al.

Zhonghua Yi Xue Za Zhi, 2010

A novel stop mutation truncating critical regions of the cardiac transcription factor NKX2-5 in a large family with autosomal-dominant inherited congenital heart disease.

Pabst S et al.

Clinical Research in Cardiology : Official Journal of the German Cardiac Society, 2008

[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."