Varaico: Literature-Extracted Genetic Variants

Gene:SGCD
Variant:p.A219delFs
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SGCD

NM_000337.6:p.A219delFs

Associated Papers

Genetic spectrum of sarcoglycanopathies in a cohort of Russian patients.

Bulakh M et al.

Gene, 2024

Clinical and genetic spectrum of a large cohort of patients with δ-sarcoglycan muscular dystrophy.

Alonso-Pérez J et al.

Brain : a Journal of Neurology, 2022

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

Limb-girdle Muscular Dystrophies in India: A Review.

Khadilkar SV et al.

Annals of Indian Academy of Neurology, 0

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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."