Varaico: Literature-Extracted Genetic Variants

Gene:NKX2-5
Variant:p.D16N
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NKX2-5

NM_004387.4:p.D16N

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 Common Tag Nucleotide Variant in MMP7 Promoter Increases Risk for Hypertension via Enhanced Interactions With CREB (Cyclic AMP Response Element-Binding Protein) Transcription Factor.

Subramanian L et al.

Hypertension (dallas, Tex. : 1979), 2019

Association of NKX2-5, GATA4, and TBX5 polymorphisms with congenital heart disease in Egyptian children.

Behiry EG et al.

Molecular Genetics & Genomic Medicine, 2019

Computational modeling suggests impaired interactions between NKX2.5 and GATA4 in individuals carrying a novel pathogenic D16N NKX2.5 mutation.

Mattapally S et al.

Oncotarget, 2018

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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."