Varaico: Literature-Extracted Genetic Variants

Gene:CHCHD10
Variant:p.P23S
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CHCHD10

NM_213720.3:p.P23S

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

ANXA11 Mutations in the FTD Spectrum: A Novel Finding in a Patient With Semantic Variant Primary Progressive Aphasia.

Meng Y et al.

European Journal of Neurology, 2025

40345169 (PubMed )
Supplement: ENE-32-e70187-s001.docx

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

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."