Varaico: Literature-Extracted Genetic Variants

Gene:MYH3
Variant:p.F287V
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MYH3

NM_002470.4:p.F287V

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

Bi-allelic variants in MYH3 cause recessively-inherited arthrogryposis.

Morali B et al.

Clinical Genetics, 2024

A Study of Polish Family with Scoliosis and Limb Contractures Expands the MYH3 Disease Spectrum.

Frasuńska J et al.

Genes, 2024

A novel pathogenic MYH3 mutation in a child with Sheldon-Hall syndrome and vertebral fusions.

Scala M et al.

American Journal of Medical Genetics. Part A, 2018

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