Varaico: Literature-Extracted Genetic Variants

Gene:MYH3
Variant:p.L1587P
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MYH3

NM_002470.4:p.L1587P

Associated Papers

Homozygous Pathogenic MYH3 Variants Associated With Arthrogryposis and Lingual Dystonia.

Mouraux C et al.

Tremor and Other Hyperkinetic Movements (new York, N.y.), 2025

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

Morali B et al.

Clinical Genetics, 2024

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