Varaico: Literature-Extracted Genetic Variants

Gene:SGCB
Variant:p.G96R
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SGCB

NM_000232.5:p.G96R

Associated Papers

Identification of a shared, common haplotype segregating with an SGCB c.544 T > G mutation in Indian patients affected with sarcoglycanopathy.

Sanga S et al.

Scientific Reports, 2023

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_S2__All_Scores_

Clinical, genetic profile and disease progression of sarcoglycanopathies in a large cohort from India: high prevalence of SGCB c.544A > C.

Bardhan M et al.

Neurogenetics, 2022

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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."