Varaico: Literature-Extracted Genetic Variants

Gene:SCNM1
Variant:p.R63delFs
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SCNM1

NM_024041.4:p.R63delFs

Associated Papers

Expanding the phenotype associated with biallelic SCNM1 variants.

Iturrate A et al.

Human Genomics, 2025

41291844 (PubMed )
Supplement: 40246_2025_868_MOESM1_ESM.docx
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