Varaico: Literature-Extracted Genetic Variants

Gene:NKX2-5
Variant:p.W185L
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NKX2-5

NM_004387.4:p.W185L

Associated Papers

Arrhythmias May Hide a Genetic Cardiomyopathy in Left Ventricular Hypertrabeculation in Children: A Single-Center Experience.

Battipaglia I et al.

Children (basel, Switzerland), 2024

Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.

Wei J et al.

Plos Biology, 2024

38865309 (PubMed )
Supplement: pbio.3002680.s016.xlsx › ClinVar

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

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

Chung IM et al.

Genes, 2016

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

Abou Hassan OK et al.

Scientific Reports, 2015

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

Spectrum of atrial septal defects associated with mutations of NKX2.5 and GATA4 transcription factors.

Sarkozy A et al.

Journal of Medical Genetics, 2005

[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."