Varaico: Literature-Extracted Genetic Variants

Gene:MYOF
Variant:p.R334G
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MYOF

NM_013451.4:p.R334G

Associated Papers

Exome sequencing of choreoacanthocytosis reveals novel mutations in VPS13A and co-mutation in modifier gene(s).

Chaudhari S et al.

Molecular Genetics and Genomics : Mgg, 2023

37209156 (PubMed )
Supplement: 438_2023_2032_MOESM3_ESM.xlsx › Case_1
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