Varaico: Literature-Extracted Genetic Variants

Gene:SGCA
Variant:p.Y134*
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SGCA

NM_000023.4:p.Y134*

Associated Papers

Genetic spectrum of sarcoglycanopathies in a cohort of Russian patients.

Bulakh M et al.

Gene, 2024

Genetic findings in Czech patients with limb girdle muscular dystrophy.

Zídková J et al.

Clinical Genetics, 2023

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

Reverse protein arrays as novel approach for protein quantification in muscular dystrophies.

Escher C et al.

Neuromuscular Disorders : Nmd, 2010

Alpha-sarcoglycanopathy previously misdiagnosed as Duchenne muscular dystrophy: implications for current diagnostics and patient care.

Schara U et al.

European Journal of Pediatrics, 2001

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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."