Varaico: Literature-Extracted Genetic Variants

Gene:SGCA
Variant:p.V242F
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SGCA

NM_000023.4:p.V242F

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

Genotype-phenotype correlations in 35 Brazilian families with sarcoglycanopathies including the description of three novel mutations.

Moreira ES et al.

Journal of Medical Genetics, 2003

Partial alpha-sarcoglycan deficiency with retention of the dystrophin-glycoprotein complex in a LGMD2D family.

Vainzof M et al.

Muscle & Nerve, 2000

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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."