Varaico: Literature-Extracted Genetic Variants

Gene:SGCA
Variant:p.I103T
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SGCA

NM_000023.4:p.I103T

Associated Papers

Genetic spectrum of sarcoglycanopathies in a cohort of Russian patients.

Bulakh M et al.

Gene, 2024

Genetic findings in Czech patients with limb girdle muscular dystrophy.

Zídková J et al.

Clinical Genetics, 2023

Autosomal recessive limb-girdle muscular dystrophies in the Czech Republic.

Stehlíková K et al.

Bmc Neurology, 2014

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

[Muscular dystrophies detected by immunophenotyping and genotype analysis (mRNA and DNA)].

Lukás Z et al.

Ceskoslovenska Patologie, 2001

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

Chen YW et al.

The Journal of Cell Biology, 2000

Mutations in the sarcoglycan genes in patients with myopathy.

Duggan DJ et al.

The New England Journal of Medicine, 1997

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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."