Varaico: Literature-Extracted Genetic Variants

Gene:SGCB
Variant:p.S114Y
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SGCB

NM_000232.5:p.S114Y

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_S2__All_Scores_
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