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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SGCD

Variant:p.L35fs

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SGCD

NM_000337.6:p.L35fs

hg38:chr5:156344588 CTG>N

Associated Papers

Profiling of pathogenic variants in Japanese patients with sarcoglycanopathy.

Shimazaki R et al.

Orphanet Journal of Rare Diseases, 2025

39755676 (PubMed )

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