Varaico: Literature-Extracted Genetic Variants

Gene:CHCHD10
Variant:p.S78S
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CHCHD10

NM_213720.3:p.S78S

Associated Papers

A systematic review and functional in-silico analysis of genes and variants associated with amyotrophic lateral sclerosis.

Arreola-Aldape CA et al.

Frontiers in Neuroscience, 2025

40589786 (PubMed )
Supplement: Table_4.xlsx › ClinVar_query_results

Dementia-related genetic variants in an Italian population of early-onset Alzheimer's disease.

Bartoletti-Stella A et al.

Frontiers in Aging Neuroscience, 2022

36133075 (PubMed )
Supplement: Table_1.XLSX › AD_017

Mutation analysis of CHCHD2 and CHCHD10 in Italian patients with mitochondrial myopathy.

Rubino E et al.

Neurobiology of Aging, 2018

Genetic analysis of CHCHD10 in French familial amyotrophic lateral sclerosis patients.

Teyssou E et al.

Neurobiology of Aging, 2016

CHCH10 mutations in an Italian cohort of familial and sporadic amyotrophic lateral sclerosis patients.

Chiò A et al.

Neurobiology of Aging, 2015

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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."