Varaico: Literature-Extracted Genetic Variants

Gene:SGCD
Variant:p.D82_S83delFs
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SGCD

NM_000337.6:p.D82_S83delFs

Associated Papers

Profiling of pathogenic variants in Japanese patients with sarcoglycanopathy.

Shimazaki R et al.

Orphanet Journal of Rare Diseases, 2025

Clinical and genetic spectrum of a large cohort of patients with δ-sarcoglycan muscular dystrophy.

Alonso-Pérez J et al.

Brain : a Journal of Neurology, 2022

34515763 (PubMed )
Supplement: awab301_supplementary_data.zip › brain-2021-01021-File009.pdf
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