Varaico: Literature-Extracted Genetic Variants

Gene:MEGF10
Variant:p.C828W
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MEGF10

NM_001256545.2:p.C828W

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

[A case of hypoxic pulmonary hypertension caused by MEGF10 gene mutation-related congenital myopathy].

Feng KF et al.

Zhonghua Xin Xue Guan Bing Za Zhi, 2025

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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."