Publications:

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: 10043G>A; Arg3348His; rs193922834

PubMed Link: 35181665

Variant Present in the following documents:

• 41525_2022_283_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness.

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

Töpf, Ana A; Johnson, Katherine K; Bates, Adam A; Phillips, Lauren L; Chao, Katherine R KR; England, Eleina M EM; Laricchia, Kristen M KM; Mullen, Thomas T; Valkanas, Elise E; Xu, Liwen L; Bertoli, Marta M; Blain, Alison A; Casasús, Ana B AB; Duff, Jennifer J; Mroczek, Magdalena M; Specht, Sabine S; Lek, Monkol M; Ensini, Monica M; MacArthur, Daniel G DG; , ; Straub, Volker V

Publication Date: 2020-09

Variant appearance in text: RYR1: 10043G>A; R3348H

PubMed Link: 32528171

Variant Present in the following documents:

• 41436_2020_840_MOESM10_ESM.xlsx, sheet 1

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Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.

Human Genomics

Fichna, Jakub Piotr JP; Macias, Anna A; Piechota, Marcin M; Korostyński, Michał M; Potulska-Chromik, Anna A; Redowicz, Maria Jolanta MJ; Zekanowski, Cezary C

Publication Date: 2018-07-03

Variant appearance in text: RYR1: 10043G>A; Arg3348His; rs193922834

PubMed Link: 29970176

Variant Present in the following documents:

• 40246_2018_167_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

Colorectal adenomas contain multiple somatic mutations that do not coincide with synchronous adenocarcinoma specimens.

Plos One

Vaqué, José P JP; Martínez, Nerea N; Varela, Ignacio I; Fernández, Fidel F; Mayorga, Marta M; Derdak, Sophia S; Beltrán, Sergi S; Moreno, Thaidy T; Almaraz, Carmen C; De Las Heras, Gonzalo G; Bayés, Mónica M; Gut, Ivo I; Crespo, Javier J; Piris, Miguel A MA

Publication Date: 2015

Variant appearance in text: RYR1: 10043G>A; R3348H

PubMed Link: 25775023

Variant Present in the following documents:

• pone.0119946.s007.xls, sheet 1
• pone.0119946.s007.xls, sheet 2

View BVdb publication page