Varaico: Literature-Extracted Genetic Variants

Gene:SGCA
Variant:p.V175A
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SGCA

NM_000023.4:p.V175A

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

Mutational diversity and hot spots in the alpha-sarcoglycan gene in autosomal recessive muscular dystrophy (LGMD2D).

Carrié A et al.

Journal of Medical Genetics, 1997

Primary adhalinopathy: a common cause of autosomal recessive muscular dystrophy of variable severity.

Piccolo F et al.

Nature Genetics, 1995

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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."