Varaico: Literature-Extracted Genetic Variants

Gene:NKX2-5
Variant:p.C270S
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NKX2-5

NM_004387.4:p.C270S

Associated Papers

Somatic NKX2-5 mutations as a novel mechanism of disease in complex congenital heart disease.

Reamon-Buettner SM et al.

Journal of Medical Genetics, 2004

Novel NKX2-5 mutations in diseased heart tissues of patients with cardiac malformations.

Reamon-Buettner SM et al.

The American Journal of Pathology, 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."