Varaico: Literature-Extracted Genetic Variants

Gene:NKX2-5
Variant:p.I184F
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NKX2-5

NM_004387.4:p.I184F

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

Mutation of a common amino acid in NKX2.5 results in dilated cardiomyopathy in two large families.

Hanley A et al.

Bmc Medical Genetics, 2016

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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."