Varaico: Literature-Extracted Genetic Variants

Gene:CHCHD2
Variant:p.A93V
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CHCHD2

NM_016139.4:p.A93V

Associated Papers

Effects of pathological mutations on the CHCHD2 monomer structure: A study by AlphaFold3 linked to the generation of conformational ensembles.

Özmen ZA et al.

Computers in Biology and Medicine, 2025

Role of the mitochondrial regulatory factor CHCHD2 in neurodegenerative diseases.

Guo X et al.

Frontiers in Neuroscience, 2025

Relevance of genetic testing in the gene-targeted trial era: the Rostock Parkinson's disease study.

Westenberger A et al.

Brain : a Journal of Neurology, 2024

39087914 (PubMed )
Supplement: awae188_supplementary_data.zip › awae188_Supplementary_Table_6.f..xlsx › Sheet1

CHCHD2 and CHCHD10: Future therapeutic targets in cognitive disorder and motor neuron disorder.

Jiang T et al.

Frontiers in Neuroscience, 2022

Neurodegeneration-associated mitochondrial proteins, CHCHD2 and CHCHD10-what distinguishes the two?

Ikeda A et al.

Frontiers in Cell and Developmental Biology, 2022

Mitochondrial CHCHD2: Disease-Associated Mutations, Physiological Functions, and Current Animal Models.

Kee TR et al.

Frontiers in Aging Neuroscience, 2021

Genetic analysis of CHCHD2 gene in Chinese Parkinson's disease.

Li NN et al.

American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 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."