Varaico: Literature-Extracted Genetic Variants

Gene:SGCA
Variant:p.P228Q
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SGCA

NM_000023.4:p.P228Q

Associated Papers

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

Georganopoulou DG et al.

The Protein Journal, 2021

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

Rescue of sarcoglycan mutations by inhibition of endoplasmic reticulum quality control is associated with minimal structural modifications.

Soheili T et al.

Human Mutation, 2012

Sarcoglycanopathies: molecular pathogenesis and therapeutic prospects.

Sandonà D et al.

Expert Reviews in Molecular Medicine, 2009

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."