Varaico: Literature-Extracted Genetic Variants

Gene:MEGF10
Variant:p.R77W
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MEGF10

NM_001256545.2:p.R77W

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

Severe Scoliosis As the Clue for an Early Onset Myopathy, Areflexia, Respiratory Distress, and Dysphagia (EMARDD) Diagnosis During Childhood: A Case Report.

Figueiredo AS et al.

Cureus, 2024

Mutation spectrum of hereditary myopathies in Turkish patients and novel variants.

Saat H et al.

Annals of Human Genetics, 2021

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