Varaico: Literature-Extracted Genetic Variants

Gene:CDK13
Variant:p.A777G
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CDK13

NM_003718.5:p.A777G

Associated Papers

Validation of a hypomorphic variant in CDK13 as the cause of CHDFIDD with autosomal recessive inheritance through determination of an episignature.

Fischer J et al.

Clinical Epigenetics, 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."