Varaico: Literature-Extracted Genetic Variants

Gene:MYH2
Variant:p.L1237F
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MYH2

NM_017534.6:p.L1237F

Associated Papers

Unveiling MYH2-related myopathy: Histological-genetic insights from a case series and systematic review.

Labella B et al.

Journal of Neuromuscular Diseases, 2025

Novel mutation in the MYH2 gene in a symptomatic neonate with a hereditary myosin myopathy.

Oatmen K et al.

Journal of Neonatal-perinatal Medicine, 2022

Retinoblastoma from human stem cell-derived retinal organoids.

Norrie JL et al.

Nature Communications, 2021

34315877 (PubMed )
Supplement: 41467_2021_24781_MOESM7_ESM.xlsx › WGS_retinoblastoma
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