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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CAPN3

Variant:p.S194F

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CAPN3

NM_000070.3:p.S194F

hg38:chr15:42387835 C>T

Associated Papers

Clinical and Genetic Characterization of CAPN3-Related Limb-Girdle Muscular Dystrophies in an Egyptian Cohort.

Abdel Aleem AF et al.

Pediatric Neurology, 2026

41633215 (PubMed )

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