Varaico: Literature-Extracted Genetic Variants

Gene:SGCB
Variant:p.Y123S
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SGCB

NM_000232.5:p.Y123S

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

Genetic evaluation of cardiomyopathies in Qatar identifies enrichment of pathogenic sarcomere gene variants and possible founder disease mutations in the Arabs.

Al-Shafai KN et al.

Molecular Genetics & Genomic Medicine, 2021

34137518 (PubMed )
Supplement: MGG3-9-e1709-s001.xlsx › Sheet1
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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."