Varaico: Literature-Extracted Genetic Variants

Gene:MYH3
Variant:p.E281K
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MYH3

NM_002470.4:p.E281K

Associated Papers

Decoding Myosin-3 mutational hotspots: Linking deleterious variants to Duchenne muscular dystrophy severity and psychiatric comorbidities.

Hakami MA et al.

Plos One, 2025

Unraveling the genetic architecture of congenital vertebral malformation with reference to the developing spine.

Zhao S et al.

Nature Communications, 2024

38321032 (PubMed )
Supplement: 41467_2024_45442_MOESM6_ESM.xlsx › Sheet1

Expanding the mutation and phenotype spectrum of MYH3-associated skeletal disorders.

Zhao S et al.

Npj Genomic Medicine, 2022

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