Varaico: Literature-Extracted Genetic Variants

Gene:CDK10
Variant:p.P290_W291delFs
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CDK10

NM_052988.5:p.P290_W291delFs

Associated Papers

Two Siblings With Al Kaissi Syndrome: Clinical, Radiological, and Molecular Characterization of Compound Heterozygous CDK10 Variants.

Yigit ZM et al.

American Journal of Medical Genetics. Part A, 2026

40960173 (PubMed )
Supplement: supplement_1.xlsx › Sayfa1

Genetic disease risks of under-represented founder populations in New York City.

Isshiki M et al.

Plos Genetics, 2025

40554605 (PubMed )
Supplement: pgen.1011755.s006.xlsx › TableS2

Genetic disease risks of under-represented founder populations in New York City.

Isshiki M et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

39399040 (PubMed )
Supplement: media-1.xlsx › TableS2

Functional characterization of CDK10 and cyclin M truncated variants causing severe developmental disorders.

Robert T et al.

Molecular Genetics & Genomic Medicine, 2021

A homozygous deleterious CDK10 mutation in a patient with agenesis of corpus callosum, retinopathy, and deafness.

Guen VJ et al.

American Journal of Medical Genetics. Part A, 2018

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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."