Varaico: Literature-Extracted Genetic Variants

Gene:CDK13
Variant:p.S33F
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CDK13

NM_003718.5:p.S33F

Associated Papers

Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption.

Nava C et al.

Nature Genetics, 2025

40379786 (PubMed )
Supplement: 41588_2025_2184_MOESM4_ESM.xlsx › Supp._Table_4
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