Varaico: Literature-Extracted Genetic Variants

Gene:CEP57
Variant:p.E128Splc
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CEP57

NM_014679.5:p.E128Splc

Associated Papers

Mosaic variegated aneuploidy in development, ageing and cancer.

Malumbres M et al.

Nature Reviews. Genetics, 2024

Mosaic variegated aneuploidy syndrome 2 with biallelic novel CEP57 splice site variation in Indian siblings: Expanding the clinical and molecular spectrum.

Langeh N et al.

Clinical Genetics, 2023

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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."