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

Li C, Wilborn J, Pittman S, Daw J, Alonso-Perez J, Diaz-Manera J, Weihl CC, Haller G
J Clin Invest. 2023 Jun 15;133(12):e168156. doi: 10.1172/JCI168156. (Link opens in a new window) PubMed (Link opens in a new window) Article

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