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: G59A

PubMed Link: 37317968

Variant Present in the following documents:

• jci-133-168156-s148.xlsx, sheet 2

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Application of mutational profiling: new functional analyses reveal the tRNA recognition mechanism of tRNA m1A22 methyltransferase (TrmK).

The Journal Of Biological Chemistry

Yamagami, Ryota R; Hori, Hiroyuki H

Publication Date: 2022-11-30

Variant appearance in text: GAA: G59A

PubMed Link: 36462666

Variant Present in the following documents:

• main.pdf

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Resistance/fitness trade-off is a barrier to the evolution of MarR inactivation mutants in Escherichia coli.

The Journal Of Antimicrobial Chemotherapy

Praski Alzrigat, Lisa L; Huseby, Douglas L DL; Brandis, Gerrit G; Hughes, Diarmaid D

Publication Date: 2021-01-01

Variant appearance in text: GAA: G59A

PubMed Link: 33089314

Variant Present in the following documents:

• Main text
• dkaa417.pdf

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Mutational processes shape the landscape of TP53 mutations in human cancer.

Nature Genetics

Giacomelli, Andrew O AO; Yang, Xiaoping X; Lintner, Robert E RE; McFarland, James M JM; Duby, Marc M; Kim, Jaegil J; Howard, Thomas P TP; Takeda, David Y DY; Ly, Seav Huong SH; Kim, Eejung E; Gannon, Hugh S HS; Hurhula, Brian B; Sharpe, Ted T; Goodale, Amy A; Fritchman, Briana B; Steelman, Scott S; Vazquez, Francisca F; Tsherniak, Aviad A; Aguirre, Andrew J AJ; Doench, John G JG; Piccioni, Federica F; Roberts, Charles W M CWM; Meyerson, Matthew M; Getz, Gad G; Johannessen, Cory M CM; Root, David E DE; Hahn, William C WC

Publication Date: 2018-10

Variant appearance in text: GAA: G59A

PubMed Link: 30224644

Variant Present in the following documents:

• NIHMS1501645-supplement-4.xlsx, sheet 1

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