Varaico: Literature-Extracted Genetic Variants

Gene:NKX2-5
Variant:p.R134W
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NKX2-5

NM_004387.4:p.R134W

Associated Papers

Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy.

Mazzarotto F et al.

Circulation, 2020

31983221 (PubMed )
Supplement: cir-141-387-s002.xlsx › Table_S3

Molecular insight into heart development and congenital heart disease: An update review from the Arab countries.

Aburawi EH et al.

Trends in Cardiovascular Medicine, 2015

TBX5 mutations in non-Holt-Oram syndrome (HOS) malformed hearts.

Reamon-Buettner SM et al.

Human Mutation, 2004

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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."