Varaico: Literature-Extracted Genetic Variants

Gene:NKX2-5
Variant:p.A63G
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NKX2-5

NM_004387.4:p.A63G

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

A gain-of-function ACTC1 3'UTR mutation that introduces a miR-139-5p target site may be associated with a dominant familial atrial septal defect.

Wang Y et al.

Scientific Reports, 2016

27139165 (PubMed )
Supplement: srep25404-s1.pdf

Investigation of NKX2.5 gene mutations in congenital heart defects in an Indian population.

Ketharnathan S et al.

Genetic Testing and Molecular Biomarkers, 2015

Associations between two genetic variants in NKX2-5 and risk of congenital heart disease in Chinese population: a meta-analysis.

Wang Z et al.

Plos One, 2013

Investigation of somatic NKX2-5 mutations in congenital heart disease.

Draus JM et al.

Journal of Medical Genetics, 2009

NKX2.5 mutations in patients with tetralogy of fallot.

Goldmuntz E et al.

Circulation, 2001

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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."