Varaico: Literature-Extracted Genetic Variants

Gene:CCNQ
Variant:p.Y67insFs
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CCNQ

NM_152274.5:p.Y67insFs

Associated Papers

Toe Polydactyly and Supernumerary Nipple: Broadening the Phenotypic Spectrum of STAR Syndrome.

Zgheib O et al.

Clinical Genetics, 2025

CDK10/cyclin M is a protein kinase that controls ETS2 degradation and is deficient in STAR syndrome.

Guen VJ et al.

Proceedings of the National Academy of Sciences of the United States of America, 2013

Mutations in the cyclin family member FAM58A cause an X-linked dominant disorder characterized by syndactyly, telecanthus and anogenital and renal malformations.

Unger S et al.

Nature Genetics, 2008

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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."