Varaico: Literature-Extracted Genetic Variants

Gene:SGCG
Variant:p.Q284*
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SGCG

NM_000231.3:p.Q284*

Associated Papers

Muscle transcriptomics of alpha-sarcoglycanopathy highlights inflammatory pathways driving disease.

Amaro A et al.

Brain : a Journal of Neurology, 2025

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

Revised spectrum of mutations in sarcoglycanopathies.

Trabelsi M et al.

European Journal of Human Genetics : Ejhg, 2008

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

Boito C et al.

Journal of Medical Genetics, 2003

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

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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."