Varaico: Literature-Extracted Genetic Variants

Gene:NKX2-5
Variant:p.C264*
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NKX2-5

NM_004387.4:p.C264*

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

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

[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

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

Stallmeyer B et al.

Clinical Genetics, 2010

Single-nucleotide polymorphisms of NKX2.5 found in congenital heart disease patients of Mysore, South India.

Dinesh SM et al.

Genetic Testing and Molecular Biomarkers, 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

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

Genetics of atrioventricular conduction disease in humans.

Benson DW

The Anatomical Record. Part A, Discoveries in Molecular, Cellular, and Evolutionary Biology, 2004

Novel point mutation in the cardiac transcription factor CSX/NKX2.5 associated with congenital heart disease.

Ikeda Y et al.

Circulation Journal : Official Journal of the Japanese Circulation Society, 2002

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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."