Varaico: Literature-Extracted Genetic Variants

Gene:CHCHD2
Variant:p.R18Q
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CHCHD2

NM_016139.4:p.R18Q

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

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

Mitochondrial CHCHD-Containing Proteins: Physiologic Functions and Link with Neurodegenerative Diseases.

Zhou ZD et al.

Molecular Neurobiology, 2017

Mutational scanning of the CHCHD2 gene in Han Chinese patients with Parkinson's disease and meta-analysis of the literature.

Yang X et al.

Parkinsonism & Related Disorders, 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."