Varaico: Literature-Extracted Genetic Variants

Gene:SGCA
Variant:p.T293I
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SGCA

NM_000023.4:p.T293I

Associated Papers

Impact of next-generation sequencing panels in the evaluation of limb-girdle muscular dystrophies.

Özyilmaz B et al.

Annals of Human Genetics, 2019

Asymptomatic carriers for homozygous novel mutations in the FKRP gene: the other end of the spectrum.

de Paula F et al.

European Journal of Human Genetics : Ejhg, 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."