Varaico: Literature-Extracted Genetic Variants

Gene:CHCHD2
Variant:p.R3R
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CHCHD2

NM_016139.4:p.R3R

Associated Papers

Role of the mitochondrial regulatory factor CHCHD2 in neurodegenerative diseases.

Guo X et al.

Frontiers in Neuroscience, 2025

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

Jiang T et al.

Frontiers in Neuroscience, 2022

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

Kee TR et al.

Frontiers in Aging Neuroscience, 2021

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

Rubino E et al.

Neurobiology of Aging, 2018

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

Zhou ZD et al.

Molecular Neurobiology, 2017

Genetic analysis of CHCHD2 in a southern Spanish population.

Tejera-Parrado C et al.

Neurobiology of Aging, 2017

Mutation analysis of CHCHD2 gene in Chinese Han familial essential tremor patients and familial Parkinson's disease patients.

Gao C et al.

Neurobiology of Aging, 2017

Genetic analysis of the CHCHD2 gene in Chinese patients with familial essential tremor.

Wu H et al.

Neuroscience Letters, 2016

Genetic analysis of the CHCHD2 gene in a cohort of Chinese patients with Parkinson disease.

Wu H et al.

Neuroscience Letters, 2016

Mutation analysis of the CHCHD2 gene in Chinese Han patients with Parkinson's disease.

Lu Q et al.

Parkinsonism & Related Disorders, 2016

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

Mutation analysis of CHCHD2 in Canadian patients with familial Parkinson's disease.

Zhang M et al.

Neurobiology of Aging, 2016

CHCHD2 gene mutations in familial and sporadic Parkinson's disease.

Shi CH et al.

Neurobiology of Aging, 2016

CHCHD2 mutations in autosomal dominant late-onset Parkinson's disease: a genome-wide linkage and sequencing study.

Funayama M et al.

The Lancet. Neurology, 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."