Varaico: Literature-Extracted Genetic Variants

Gene:MYO5C
Variant:p.P81L
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MYO5C

NM_018728.4:p.P81L

Associated Papers

Severe Phenotype in a Patient With Homozygous 15q21.2 Microdeletion Involving BCL2L10, GNB5, and MYO5C Genes, Resembling Infantile Developmental Disorder With Cardiac Arrhythmias (IDDCA).

Sciacca FL et al.

Frontiers in Genetics, 2020

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