Varaico: Literature-Extracted Genetic Variants

Gene:CACNA1E
Variant:p.G245insFs
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CACNA1E

NM_001205293.3:p.G245insFs

Associated Papers

Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy.

Töpf A et al.

Nature Genetics, 2024

38429495 (PubMed )
Supplement: 41588_2023_1651_MOESM5_ESM.xlsx › Supp_Table_1
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