Varaico: Literature-Extracted Genetic Variants

Gene:SGCD
Variant:p.L77L
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SGCD

NM_000337.6:p.L77L

Associated Papers

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

Amaro A et al.

Brain : a Journal of Neurology, 2025

A Journey with LGMD: From Protein Abnormalities to Patient Impact.

Georganopoulou DG et al.

The Protein Journal, 2021

Revised spectrum of mutations in sarcoglycanopathies.

Trabelsi M et al.

European Journal of Human Genetics : Ejhg, 2008

A new evidence for the maintenance of the sarcoglycan complex in muscle sarcolemma in spite of the primary absence of delta-SG protein.

Gouveia TL et al.

Journal of Molecular Medicine (berlin, Germany), 2007

Sarcoglycanopathies: a multiplex molecular analysis for the most common mutations.

Gouveia TL et al.

Diagnostic Molecular Pathology : the American Journal of Surgical Pathology, Part B, 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."