Varaico: Literature-Extracted Genetic Variants

Gene:NKX2-5
Variant:p.A88delFs
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NKX2-5

NM_004387.4:p.A88delFs

Associated Papers

A novel NKX2-5 mutation causing atrial septal defect and high-degree atrioventricular block in a Chinese family.

Liu H et al.

Esc Heart Failure, 2026

Genetic Insights into Congenital Cardiac Septal Defects-A Narrative Review.

Cervantes-Salazar JL et al.

Biology, 2024

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

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

[Mutation of NKX2-5 gene in patients with atrial septal defect].

Liu XY et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2009

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

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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."