Varaico: Literature-Extracted Genetic Variants

Gene:MORC2
Variant:p.S388R
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MORC2

NM_001303256.3:p.S388R

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 › Phenotypes_in_MORC2

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

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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."