Varaico: Literature-Extracted Genetic Variants

Gene:ARMC9
Variant:p.G492R
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ARMC9

NM_001352754.2:p.G492R

Associated Papers

A network of interacting ciliary tip proteins with opposing activities imparts slow and processive microtubule growth.

Saunders HAJ et al.

Nature Structural & Molecular Biology, 2025

Whole Exome Sequencing Identified Novel ARMC9 Variations in Two Cases With Joubert Syndrome.

Wang H et al.

Frontiers in Genetics, 2022

Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish.

Van De Weghe JC et al.

American Journal of Human Genetics, 2017

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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."