Varaico: Literature-Extracted Genetic Variants

Gene:CEP83
Variant:p.G93insFs
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CEP83

NM_016122.3:p.G93insFs

Associated Papers

A ciliopathy combining Joubert syndrome and Oro-Facial-Digital syndrome caused by bi-allelic 5'-UTR loss-of-function CEP83 variant.

Jean MM et al.

Npj Genomic Medicine, 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."