Varaico: Literature-Extracted Genetic Variants

Gene:SGCG
Variant:p.S107L
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SGCG

NM_000231.3:p.S107L

Associated Papers

Comprehensive functional characterization of SGCB coding variants predicts pathogenicity in limb-girdle muscular dystrophy type R4/2E.

Li C et al.

The Journal of Clinical Investigation, 2023

37317968 (PubMed )
Supplement: jci-133-168156-s148.xlsx › Table_S6__D_and_G_

Targeted next-generation sequencing determined a novel SGCG variant that is associated with limb-girdle muscular dystrophy type 2C: A case report.

Tran NC et al.

Clinical Case Reports, 2023

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."