Varaico: Literature-Extracted Genetic Variants

Gene:CEP41
Variant:p.R179H
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CEP41

NM_018718.3:p.R179H

Associated Papers

CEP41, a ciliopathy-linked centrosomal protein, regulates microtubule assembly and cell proliferation.

Prassanawar SS et al.

Journal of Cell Science, 2024

CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium.

Lee JE et al.

Nature Genetics, 2012

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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."