Varaico: Literature-Extracted Genetic Variants

Gene:SGCA
Variant:p.L158F
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SGCA

NM_000023.4:p.L158F

Associated Papers

Sarcolemmal alpha and gamma sarcoglycan protein deficiencies in Turkish siblings with a novel missense mutation in the alpha sarcoglycan gene.

Diniz G et al.

Pediatric Neurology, 2014

Heart involvement in muscular dystrophies due to sarcoglycan gene mutations.

Melacini P et al.

Muscle & Nerve, 1999

Mutations in the sarcoglycan genes in patients with myopathy.

Duggan DJ et al.

The New England Journal of Medicine, 1997

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."