Varaico: Literature-Extracted Genetic Variants

Gene:CFAP410
Variant:p.R106C
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CFAP410

NM_004928.3:p.R106C

Associated Papers

C21ORF2 mutations point towards primary cilia dysfunction in amyotrophic lateral sclerosis.

De Decker M et al.

Brain : a Journal of Neurology, 2025

Emerging roles of primary cilia in the pathogenesis of amyotrophic lateral sclerosis.

Takahashi H et al.

Frontiers in Neuroscience, 2025

Retinitis pigmentosa prior to familial ALS caused by a homozygous cilia and flagella-associated protein 410 mutation.

Kurashige T et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2020

Prediction of structural consequences for disease causing variants in C21orf2 protein using computational approaches.

Iyer S et al.

Journal of Biomolecular Structure & Dynamics, 2019

Unraveling the multifaceted insights into amyotrophic lateral sclerosis: Genetic underpinnings, pathogenesis, and therapeutic horizons.

Sharma R et al.

Mutation Research. Reviews in Mutation Research, 0

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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."