Varaico: Literature-Extracted Genetic Variants

Gene:SGCA
Variant:p.V175delFs
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SGCA

NM_000023.4:p.V175delFs

Associated Papers

282nd ENMC international workshop - standards of diagnosis and care for the sarcoglycanopathies. 8-10 November 2024, Amsterdam, Netherlands.

Iammarino MA et al.

Neuromuscular Disorders : Nmd, 2025

Dual Blockade of Misfolded Alpha-Sarcoglycan Degradation by Bortezomib and Givinostat Combination.

Hoch L et al.

Frontiers in Pharmacology, 2022

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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."