Publications:

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Clinical pharmacogenetic analysis in 5,001 individuals with diagnostic Exome Sequencing data.

Npj Genomic Medicine

Lanillos, Javier J; Carcajona, Marta M; Maietta, Paolo P; Alvarez, Sara S; Rodriguez-Antona, Cristina C

Publication Date: 2022-02-18

Variant appearance in text: UGT1A1: 748T>C; Ser250Pro; rs57307513

PubMed Link: 35181665

Variant Present in the following documents:

• 41525_2022_283_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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TRPV4 and KRAS and FGFR1 gain-of-function mutations drive giant cell lesions of the jaw.

Nature Communications

Gomes, Carolina Cavalieri CC; Gayden, Tenzin T; Bajic, Andrea A; Harraz, Osama F OF; Pratt, Jonathan J; Nikbakht, Hamid H; Bareke, Eric E; Diniz, Marina Gonçalves MG; Castro, Wagner Henriques WH; St-Onge, Pascal P; Sinnett, Daniel D; Han, HyeRim H; Rivera, Barbara B; Mikael, Leonie G LG; De Jay, Nicolas N; Kleinman, Claudia L CL; Valera, Elvis Terci ET; Bassenden, Angelia V AV; Berghuis, Albert M AM; Majewski, Jacek J; Nelson, Mark T MT; Gomez, Ricardo Santiago RS; Jabado, Nada N

Publication Date: 2018-11-01

Variant appearance in text: UGT1A1: S250P; rs57307513

PubMed Link: 30385747

Variant Present in the following documents:

• 41467_2018_6690_MOESM8_ESM.xlsx, sheet 1

View BVdb publication page

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Characterization of ADME gene variation in 21 populations by exome sequencing.

Pharmacogenetics And Genomics

Hovelson, Daniel H DH; Xue, Zhengyu Z; Zawistowski, Matthew M; Ehm, Margaret G MG; Harris, Elizabeth C EC; Stocker, Sophie L SL; Gross, Annette S AS; Jang, In-Jin IJ; Ieiri, Ichiro I; Lee, Jong-Eun JE; Cardon, Lon R LR; Chissoe, Stephanie L SL; Abecasis, Gonçalo G; Nelson, Matthew R MR

Publication Date: 2017-03

Variant appearance in text: UGT1A1: 748T>C; Ser250Pro; rs57307513

PubMed Link: 27984508

Variant Present in the following documents:

• fpc-27-089-s005.xlsx, sheet 2

View BVdb publication page

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Exome-Wide Association Study Identifies New Low-Frequency and Rare UGT1A1 Coding Variants and UGT1A6 Coding Variants Influencing Serum Bilirubin in Elderly Subjects: A Strobe Compliant Article.

Medicine

Oussalah, Abderrahim A; Bosco, Paolo P; Anello, Guido G; Spada, Rosario R; Guéant-Rodriguez, Rosa-Maria RM; Chery, Céline C; Rouyer, Pierre P; Josse, Thomas T; Romano, Antonino A; Elia, Maurizzio M; Bronowicki, Jean-Pierre JP; Guéant, Jean-Louis JL

Publication Date: 2015-06

Variant appearance in text: UGT1A1: Ser250Pro; rs57307513

PubMed Link: 26039129

Variant Present in the following documents:

• Main text
• medi-94-e925.pdf

View BVdb publication page

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Regression Modeling and Meta-Analysis of Diagnostic Accuracy of SNP-Based Pathogenicity Detection Tools for UGT1A1 Gene Mutation.

Genetics Research International

Rahim, Fakher F; Galehdari, Hamid H; Mohammadi-Asl, Javad J; Saki, Najmaldin N

Publication Date: 2013

Variant appearance in text: UGT1A1: S250P; rs57307513

PubMed Link: 23997956

Variant Present in the following documents:

• Main text
• GRI2013-546909.pdf

View BVdb publication page

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Meta-analysis diagnostic accuracy of SNP-based pathogenicity detection tools: a case of UTG1A1 gene mutations.

International Journal Of Molecular Epidemiology And Genetics

Galehdari, Hamid H; Saki, Najmaldin N; Mohammadi-Asl, Javad J; Rahim, Fakher F

Publication Date: 2013

Variant appearance in text: UGT1A1: S250P; rs57307513

PubMed Link: 23875061

Variant Present in the following documents:

• Main text

View BVdb publication page

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