Varaico: Literature-Extracted Genetic Variants

Gene:SGCA
Variant:p.A53Splc
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SGCA

NM_000023.4:p.A53Splc

Associated Papers

Genetic findings in Czech patients with limb girdle muscular dystrophy.

Zídková J et al.

Clinical Genetics, 2023

Base editing repairs an SGCA mutation in human primary muscle stem cells.

Escobar H et al.

Jci Insight, 2021

Autosomal recessive limb-girdle and Miyoshi muscular dystrophies in the Netherlands: The clinical and molecular spectrum of 244 patients.

Ten Dam L et al.

Clinical Genetics, 2019

Autosomal recessive limb-girdle muscular dystrophies in the Czech Republic.

Stehlíková K et al.

Bmc Neurology, 2014

[Muscular dystrophies detected by immunophenotyping and genotype analysis (mRNA and DNA)].

Lukás Z et al.

Ceskoslovenska Patologie, 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."