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: rs752430492

PubMed Link: 37021041

Variant Present in the following documents:

• Table2.xlsx, sheet 1

View BVdb publication page

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: 7769C>T; Ser2590Phe; rs752430492

PubMed Link: 35181665

Variant Present in the following documents:

• 41525_2022_283_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

Whole-exome sequencing in eccrine porocarcinoma indicates promising therapeutic strategies.

Cancer Gene Therapy

Denisova, Evgeniya E; Westphal, Dana D; Surowy, Harald M HM; Meier, Friedegund F; Hutter, Barbara B; Reifenberger, Julia J; Rütten, Arno A; Schulz, Alexander A; Sergon, Mildred M; Ziemer, Mirjana M; Brors, Benedikt B; Betz, Regina C RC; Redler, Silke S

Publication Date: 2022-06

Variant appearance in text: RYR1: S2590F

PubMed Link: 34045664

Variant Present in the following documents:

• 41417_2021_347_MOESM4_ESM.xls, sheet 10

View BVdb publication page