Varaico: Literature-Extracted Genetic Variants

Gene:SGCB
Variant:p.R91L
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SGCB

NM_000232.5:p.R91L

Associated Papers

Comprehensive functional characterization of SGCB coding variants predicts pathogenicity in limb-girdle muscular dystrophy type R4/2E.

Li C et al.

The Journal of Clinical Investigation, 2023

Genetics and genomic medicine in Tunisia.

Elloumi-Zghal H et al.

Molecular Genetics & Genomic Medicine, 2018

The sarcoglycan complex in skeletal muscle.

Tarakci H et al.

Frontiers in Bioscience (landmark Edition), 2016

Seven autosomal recessive limb-girdle muscular dystrophies in the Brazilian population: from LGMD2A to LGMD2G.

Passos-Bueno MR et al.

American Journal of Medical Genetics, 1999

LGMD 2E in Tunisia is caused by a homozygous missense mutation in beta-sarcoglycan exon 3.

Bönnemann CG et al.

Neuromuscular Disorders : Nmd, 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."