Publications:

Pharmacogenomic profile of actionable molecular variants related to drugs commonly used in anesthesia: WES analysis reveals new mutations.

Frontiers In Pharmacology

Parada-Márquez, Juan Fernando JF; Maldonado-Rodriguez, Nicolás David ND; Triana-Fonseca, Paula P; Contreras-Bravo, Nora Constanza NC; Calderón-Ospina, Carlos Alberto CA; Restrepo, Carlos M CM; Morel, Adrien A; Ortega-Recalde, Oscar Javier OJ; Silgado-Guzmán, Daniel Felipe DF; Angulo-Aguado, Mariana M; Fonseca-Mendoza, Dora Janeth DJ

Publication Date: 2023

Variant appearance in text: rs551223467

PubMed Link: 37021041

Variant Present in the following documents:

• Table2.xlsx, sheet 1

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Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics

Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,

Publication Date: 2022-12-01

Variant appearance in text: RYR1: P2462L; rs551223467

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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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: RYR1: 7385C>T; Pro2462Leu; rs551223467

PubMed Link: 35181665

Variant Present in the following documents:

• 41525_2022_283_MOESM4_ESM.xlsx, sheet 1

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Variant curation expert panel recommendations for RYR1 pathogenicity classifications in malignant hyperthermia susceptibility.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Johnston, Jennifer J JJ; Dirksen, Robert T RT; Girard, Thierry T; Gonsalves, Stephen G SG; Hopkins, Philip M PM; Riazi, Sheila S; Saddic, Louis A LA; Sambuughin, Nyamkhishig N; Saxena, Richa R; Stowell, Kathryn K; Weber, James J; Rosenberg, Henry H; Biesecker, Leslie G LG

Publication Date: 2021-07

Variant appearance in text: RYR1: 7385C>T; Pro2462Leu

PubMed Link: 33767344

Variant Present in the following documents:

• NIHMS1689967-supplement-Large_Excel_File.xls, sheet 5

View BVdb publication page