Varaico: Literature-Extracted Genetic Variants

Gene:NKX2-5
Variant:p.E21*
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NKX2-5

NM_004387.4:p.E21*

Associated Papers

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

R25C mutation in the NKX2.5 gene in Italian patients affected with non-syndromic and syndromic congenital heart disease.

Beffagna G et al.

Journal of Cardiovascular Medicine (hagerstown, Md.), 2013

Search of somatic GATA4 and NKX2.5 gene mutations in sporadic septal heart defects.

Salazar M et al.

European Journal of Medical Genetics, 0

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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."