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: 880G>A; Glu294Lys; rs779597449

PubMed Link: 35181665

Variant Present in the following documents:

• 41525_2022_283_MOESM4_ESM.xlsx, sheet 1

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Myoimaging in the NGS era: the discovery of a novel mutation in MYH7 in a family with distal myopathy and core-like features--a case report.

Bmc Medical Genetics

Astrea, Guja G; Petrucci, Antonio A; Cassandrini, Denise D; Savarese, Marco M; Trovato, Rosanna R; Lispi, Ludovico L; Rubegni, Anna A; Giacanelli, Manlio M; Massa, Roberto R; Nigro, Vincenzo V; Santorelli, Filippo M FM

Publication Date: 2016-03-22

Variant appearance in text: RYR1: Glu294Lys

PubMed Link: 27005958

Variant Present in the following documents:

• Main text
• 12881_2016_Article_288.pdf

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XV CONGRESS OF THE ITALIAN SOCIETY OF MYOLOGY Naples, Italy - May 20-23, 2015 - Program (Summary).

Acta Myologica : Myopathies And Cardiomyopathies : Official Journal Of The Mediterranean Society Of Myology

Publication Date: 2015-05

Variant appearance in text: RYR1: Glu294Lys

PubMed Link: 26155067

Variant Present in the following documents:

• 1128-2460-34-37.pdf

View BVdb publication page