Varaico: Literature-Extracted Genetic Variants

Gene:CEP78
Variant:p.Y320*
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CEP78

NM_001330691.3:p.Y320*

Associated Papers

CAKUT variants in PRPF8, DYRK2, and CEP78: implications for splicing and ciliogenesis.

Merz LM et al.

Biorxiv : the Preprint Server for Biology, 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."