Varaico: Literature-Extracted Genetic Variants

Gene:CEP41
Variant:p.M36T
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CEP41

NM_018718.3:p.M36T

Associated Papers

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

Prassanawar SS et al.

Journal of Cell Science, 2024

Family-based exome sequencing and case-control analysis implicate CEP41 as an ASD gene.

Patowary A et al.

Translational Psychiatry, 2019

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."