Publications:

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

The Journal Of Clinical Investigation

Li, Chengcheng C; Wilborn, Jackson J; Pittman, Sara S; Daw, Jil J; Alonso-Pérez, Jorge J; Díaz-Manera, Jordi J; Weihl, Conrad C CC; Haller, Gabe G

Publication Date: 2023-06-15

Variant appearance in text: GAA: N177R

PubMed Link: 37317968

Variant Present in the following documents:

• jci-133-168156-s148.xlsx, sheet 2

View BVdb publication page

Error-prone PCR mutagenesis reveals functional domains of a bacterial transcriptional activator, TraJ.

Journal Of Bacteriology

Lu, Jun J; Peng, Yun Y; Arutyunov, Denis D; Frost, Laura S LS; Glover, J N Mark JN

Publication Date: 2012-07

Variant appearance in text: GAA: N177R

PubMed Link: 22563049

Variant Present in the following documents:

• Main text

View BVdb publication page