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: H53F

PubMed Link: 37317968

Variant Present in the following documents:

• jci-133-168156-s148.xlsx, sheet 2

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Binding of transcriptional activators to sigma 54 in the presence of the transition state analog ADP-aluminum fluoride: insights into activator mechanochemical action.

Genes & Development

Chaney, M M; Grande, R R; Wigneshweraraj, S R SR; Cannon, W W; Casaz, P P; Gallegos, M T MT; Schumacher, J J; Jones, S S; Elderkin, S S; Dago, A E AE; Morett, E E; Buck, M M

Publication Date: 2001-09-01

Variant appearance in text: GAA: H53F

PubMed Link: 11544185

Variant Present in the following documents:

• Main text

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