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_
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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