Varaico: Literature-Extracted Genetic Variants

Gene:SGCA
Variant:p.R34L
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SGCA

NM_000023.4:p.R34L

Associated Papers

Clinical, pathological, imaging, and genetic characterization in a Taiwanese cohort with limb-girdle muscular dystrophy.

Liang WC et al.

Orphanet Journal of Rare Diseases, 2020

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

Xie Z et al.

Orphanet Journal of Rare Diseases, 2019

Childhood onset limb-girdle muscular dystrophies in the Aegean part of Turkey.

Yiş U et al.

Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 2018

Probable high prevalence of limb-girdle muscular dystrophy type 2D in Taiwan.

Liang WC et al.

Journal of the Neurological Sciences, 2016

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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."