Varaico: Literature-Extracted Genetic Variants

Gene:CDK13
Variant:p.Y716C
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CDK13

NM_003718.5:p.Y716C

Associated Papers

CDK13-Related Disorder: Novel Insights From A Series of 27 Cases and Recommendations for Clinical Management.

Contrò G et al.

Clinical Genetics, 2025

39971730 (PubMed )
Supplement: CGE-108-146-s002.xlsx › Table_S1

Wolfram-like syndrome with bicuspid aortic valve due to a homozygous missense variant in CDK13.

Acharya A et al.

Journal of Human Genetics, 2021

Novel pathogenic variants and multiple molecular diagnoses in neurodevelopmental disorders.

Trinh J et al.

Journal of Neurodevelopmental Disorders, 2019

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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."