Varaico: Literature-Extracted Genetic Variants

Gene:NKX2-5
Variant:p.C114G
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NKX2-5

NM_004387.4:p.C114G

Associated Papers

Case Report: The nonsense variation of the cardiac transcription factor NKX2-5 has been identified in a Chinese family with nonsyndromic congenital heart disease.

Zhang H et al.

Frontiers in Genetics, 2025

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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."