Varaico: Literature-Extracted Genetic Variants

Gene:NKX2-5
Variant:p.P254delFs
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NKX2-5

NM_004387.4:p.P254delFs

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

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

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

Stallmeyer B et al.

Clinical Genetics, 2010

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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."