Varaico: Literature-Extracted Genetic Variants

Gene:NKX2-5
Variant:p.P79P
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NKX2-5

NM_004387.4:p.P79P

Associated Papers

Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.

Vashisht S et al.

Bmc Genomics, 2025

39838281 (PubMed )
Supplement: 12864_2025_11232_MOESM4_ESM.xlsx › ClinVar_CHD-SNPs_uniq

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

Functional characterization of a novel mutation in NKX2-5 associated with congenital heart disease and adult-onset cardiomyopathy.

Costa MW et al.

Circulation. Cardiovascular Genetics, 2013

Mutational analysis of the PITX2 and NKX2-5 genes in patients with idiopathic atrial fibrillation.

Boldt LH et al.

International Journal of Cardiology, 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."