Varaico: Literature-Extracted Genetic Variants

Gene:SGCA
Variant:p.P73L
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SGCA

NM_000023.4:p.P73L

Associated Papers

The role of the dystrophin glycoprotein complex in muscle cell mechanotransduction.

Wilson DGS et al.

Communications Biology, 2022

Gene-editing, immunological and iPSCs based therapeutics for muscular dystrophy.

Singh S et al.

European Journal of Pharmacology, 2021

Identification of a novel SGCA missense mutation in a case of limb-girdle muscular dystrophy 2D with the absence of four sarcoglycan proteins.

Lu Y et al.

Neuropathology : Official Journal of the Japanese Society of Neuropathology, 2019

Clinical and genetic spectrum of sarcoglycanopathies in a large cohort of Chinese patients.

Xie Z et al.

Orphanet Journal of Rare Diseases, 2019

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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."