Varaico: Literature-Extracted Genetic Variants

Gene:CDK10
Variant:p.K174fs
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CDK10

NM_052988.5:p.K174fs

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

Dual molecular genetic diagnosis with combined malonic and methylmalonic aciduria (CMAMMA): implications of coexisting genetic disorders on clinical presentation.

Ersoy M et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 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."