Varaico: Literature-Extracted Genetic Variants

Gene:SGCA
Variant:p.A93V
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SGCA

NM_000023.4:p.A93V

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

Revised spectrum of mutations in sarcoglycanopathies.

Trabelsi M et al.

European Journal of Human Genetics : Ejhg, 2008

Expression profiling in the muscular dystrophies: identification of novel aspects of molecular pathophysiology.

Chen YW et al.

The Journal of Cell Biology, 2000

Primary alpha-sarcoglycan deficiency responsive to immunosuppression over three years.

Connolly AM et al.

Muscle & Nerve, 1998

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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."