Varaico: Literature-Extracted Genetic Variants

Gene:SGCA
Variant:p.H29insFs
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SGCA

NM_000023.4:p.H29insFs

Associated Papers

Revised spectrum of mutations in sarcoglycanopathies.

Trabelsi M et al.

European Journal of Human Genetics : Ejhg, 2008

Rather mild phenotype in a patient with homozygous null mutations in the alpha-sarcoglycan gene.

Ramelli GP et al.

Swiss Medical Weekly, 2006

Novel sarcoglycan gene mutations in a large cohort of Italian patients.

Boito C et al.

Journal of Medical Genetics, 2003

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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."