Varaico: Literature-Extracted Genetic Variants

Gene:CCNK
Variant:p.K111E
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CCNK

NM_001099402.2:p.K111E

Associated Papers

A Further Case Supporting CCNK as a Neurodevelopmental Disease Gene.

Xiol C et al.

Clinical Genetics, 2026

Cyclin-dependent kinases and rare developmental disorders.

Colas P

Orphanet Journal of Rare Diseases, 2020

De Novo Mutations of CCNK Cause a Syndromic Neurodevelopmental Disorder with Distinctive Facial Dysmorphism.

Fan Y et al.

American Journal of Human Genetics, 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."