Varaico: Literature-Extracted Genetic Variants

Gene:SGCA
Variant:p.C232S
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SGCA

NM_000023.4:p.C232S

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

Sarcoglycanopathies: molecular pathogenesis and therapeutic prospects.

Sandonà D et al.

Expert Reviews in Molecular Medicine, 2009

Sarcoglycanopathies: can muscle immunoanalysis predict the genotype?

Klinge L et al.

Neuromuscular Disorders : Nmd, 2008

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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."