Varaico: Literature-Extracted Genetic Variants

Gene:MORC2
Variant:p.R132C
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MORC2

NM_001303256.3:p.R132C

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

Frequent De Novo Mutations in Korean Patients With Charcot-Marie-Tooth Disease.

Lee AJ et al.

Journal of the Peripheral Nervous System : Jpns, 2025

Diagnostic Utility of Trio-Exome Sequencing for Children With Neurodevelopmental Disorders.

Lan X et al.

Jama Network Open, 2025

40131272 (PubMed )
Supplement: jamanetwopen-e251807-s002.xlsx › eTable1

Biological functions and molecular mechanisms of MORC2 in human diseases.

Zhao X et al.

Molecules and Cells, 2025

Identifying pathogenic variants in rare pediatric neurological diseases using exome sequencing.

Komatsu K et al.

Scientific Reports, 2024

39433808 (PubMed )
Supplement: 41598_2024_75020_MOESM2_ESM.xlsx › Supplementary_Table_S1

The Spectrum of MORC2-Related Disorders: A Potential Link to Cockayne Syndrome.

Stafki SA et al.

Pediatric Neurology, 2023

Publicly funded exome sequencing for outpatients with neurodevelopmental disorders demonstrates a high rate of unexpected findings impacting medical management.

Nakhleh Francis Y et al.

Genetics in Medicine Open, 2023

39669259 (PubMed )
Supplement: mmc1.xlsx › ______1

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

MORC2 gene de novo mutation leads to Charcot-Marie-Tooth disease type 2Z: A pediatric case report and literature review.

Yang H et al.

Medicine, 2021

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

Sivera R et al.

European Journal of Neurology, 2021

A recurrent MORC2 mutation causes Charcot-Marie-Tooth disease type 2Z.

Vujovic D et al.

Journal of the Peripheral Nervous System : Jpns, 2021

Genotype-phenotype analysis of 523 patients by genetics evaluation and clinical exome sequencing.

Ziats MN et al.

Pediatric Research, 2020

31618753 (PubMed )
Supplement: NIHMS1541080-supplement-Supp_Tables_1-2.xlsx › Supp_Table_1
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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."