Varaico: Literature-Extracted Genetic Variants

Gene:CHCHD10
Variant:p.P23L
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CHCHD10

NM_213720.3:p.P23L

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

Genetic spectrum features and diagnostic accuracy of four plasma biomarkers in 248 Chinese patients with frontotemporal dementia.

Xu T et al.

Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2024

Genetic and immunopathological analysis of CHCHD10 in Australian amyotrophic lateral sclerosis and frontotemporal dementia and transgenic TDP-43 mice.

McCann EP et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2020

Neuropathologic description of CHCHD10 mutated amyotrophic lateral sclerosis.

Keith JL et al.

Neurology. Genetics, 2020

A novel CHCHD10 mutation implicates a Mia40-dependent mitochondrial import deficit in ALS.

Lehmer C et al.

Embo Molecular Medicine, 2018

Mutation Screening of the CHCHD10 Gene in Chinese Patients with Amyotrophic Lateral Sclerosis.

Zhou Q et al.

Molecular Neurobiology, 2017

CHCHD10 mutations in patients with amyotrophic lateral sclerosis in Mainland China.

Shen S et al.

Neurobiology of Aging, 2017

Reply: High prevalence of CHCHD10 mutations in patients with frontotemporal dementia from China.

Bannwarth S et al.

Brain : a Journal of Neurology, 2016

High prevalence of CHCHD10 mutation in patients with frontotemporal dementia from China.

Jiao B et al.

Brain : a Journal of Neurology, 2016

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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."