Varaico: Literature-Extracted Genetic Variants

Gene:SGCB
Variant:p.L191delFs
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SGCB

NM_000232.5:p.L191delFs

Associated Papers

In a cohort of 961 clinically suspected Duchenne muscular dystrophy patients, 105 were diagnosed to have other muscular dystrophies (OMDs), with LGMD2E (variant SGCB c.544A>C) being the most common.

Karthikeyan P et al.

Molecular Genetics & Genomic Medicine, 2024

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