Varaico: Literature-Extracted Genetic Variants

Gene:CEP57
Variant:p.Y104*
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CEP57

NM_014679.5:p.Y104*

Associated Papers

Mosaic variegated aneuploidy in development, ageing and cancer.

Malumbres M et al.

Nature Reviews. Genetics, 2024

A novel CEP57 variant associated with mosaic variegated aneuploidy syndrome in a Chinese female presenting with short stature, microcephaly, brachydactyly, and small teeth.

Feng B et al.

Molecular Genetics & Genomic Medicine, 2022

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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."