Varaico: Literature-Extracted Genetic Variants

Gene:MEGF10
Variant:p.C118R
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MEGF10

NM_001256545.2:p.C118R

Associated Papers

Expanded spectrum of MEGF10 related myopathies: late-onset myofibrillar myopathy-like phenotype with novel variants.

Zhu B et al.

Neuromuscular Disorders : Nmd, 2026

The role of MEGF10 in myoblast fusion and hypertrophic response to overload of skeletal muscle.

Richardson L et al.

Journal of Muscle Research and Cell Motility, 2025

Phenotypic Variability of MEGF10 Variants Causing Congenital Myopathy: Report of Two Unrelated Patients from a Highly Consanguineous Population.

AlMuhaizea M et al.

Genes, 2021

MEGF10 related myopathies: A new case with adult onset disease with prominent respiratory failure and review of reported phenotypes.

Harris E et al.

Neuromuscular Disorders : Nmd, 2018

Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular Dystrophy.

Harris E et al.

Orphanet Journal of Rare Diseases, 2017

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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."