Varaico: Literature-Extracted Genetic Variants

Gene:MORC2
Variant:p.C407Y
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MORC2

NM_001303256.3:p.C407Y

Associated Papers

Pleiotropic effects of MORC2 derive from its epigenetic signature.

Peymani F et al.

Brain : a Journal of Neurology, 2026

40302207 (PubMed )
Supplement: awaf159_supplementary_data.zip › brain-2025-00099-File009.xlsx › In-house_cohort_of_MORC2_patien

Clinical and Genetic Variant Profile of Asian Charcot-Marie Tooth Patients: A Systematic Review.

Kavoosi S et al.

Iranian Journal of Public Health, 2025

Expanding the phenotypic variability of MORC2 gene mutations: From Charcot-Marie-Tooth disease to late-onset pure motor neuropathy.

Jacquier A et al.

Human Mutation, 2022

A Cockayne-like phenotype resulting from a de novo variant in MORC2: expanding the phenotype of MORC2-related disorders.

Mirchi A et al.

Neurogenetics, 2022

Microrchidia CW-Type Zinc Finger 2, a Chromatin Modifier in a Spectrum of Peripheral Neuropathies.

Jacquier A et al.

Frontiers in Cellular Neuroscience, 2022

Charcot-Marie-Tooth disease due to MORC2 mutations in Spain.

Sivera R et al.

European Journal of Neurology, 2021

Characterization of genotype-phenotype correlation with MORC2 mutated Axonal Charcot-Marie-Tooth disease in a cohort of Chinese patients.

Duan X et al.

Orphanet Journal of Rare Diseases, 2021

Characterization of molecular mechanisms underlying the axonal Charcot-Marie-Tooth neuropathy caused by MORC2 mutations.

Sancho P et al.

Human Molecular Genetics, 2019

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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."