Varaico: Literature-Extracted Genetic Variants

Gene:NKX2-5
Variant:p.P100H
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NKX2-5

NM_004387.4:p.P100H

Associated Papers

Sox6 is a candidate gene for p100H myopathy, heart block, and sudden neonatal death.

Hagiwara N et al.

Proceedings of the National Academy of Sciences of the United States of America, 2000

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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."