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: S270I

PubMed Link: 37317968

Variant Present in the following documents:

• jci-133-168156-s148.xlsx, sheet 2

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Identification of Immune-Related Gene Signatures in Lung Adenocarcinoma and Lung Squamous Cell Carcinoma.

Frontiers In Immunology

Li, Na N; Wang, Jiahong J; Zhan, Xianquan X

Publication Date: 2021

Variant appearance in text: GAA: 809G>T

PubMed Link: 34887858

Variant Present in the following documents:

• Table_3.xlsx, sheet 1

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GTP Binding is Necessary for the Activation of a Toxic Mutant Isoform of the Essential GTPase ObgE.

International Journal Of Molecular Sciences

Dewachter, Liselot L; Deckers, Babette B; Martin, Ella E; Herpels, Pauline P; Gkekas, Sotirios S; Versées, Wim W; Verstraeten, Natalie N; Fauvart, Maarten M; Michiels, Jan J

Publication Date: 2019-12-18

Variant appearance in text: GAA: S270I

PubMed Link: 31861427

Variant Present in the following documents:

• Main text

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