Varaico: Literature-Extracted Genetic Variants

Gene:CHCHD10
Variant:p.S30L
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CHCHD10

NM_213720.3:p.S30L

Associated Papers

Impacts of pathogenic mutations on the structures of the CHCHD10 monomer: An AlphaFold3 study linked to the generation of conformational ensembles.

Akkum FI et al.

International Journal of Biological Macromolecules, 2025

Neuropathologic description of CHCHD10 mutated amyotrophic lateral sclerosis.

Keith JL et al.

Neurology. Genetics, 2020

Identification of CHCHD10 variants in Chinese patients with Parkinson's disease.

Zhou X et al.

Parkinsonism & Related Disorders, 2018

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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."