Varaico: Literature-Extracted Genetic Variants

Gene:RYR1
Variant:p.E30V
Back to variants list

RYR1

NM_000540.3:p.E30V

Associated Papers

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

Parada-Márquez JF et al.

Frontiers in Pharmacology, 2023

37021041 (PubMed )
Supplement: Table2.xlsx › Hoja1

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

Lanillos J et al.

Npj Genomic Medicine, 2022

35181665 (PubMed )
Supplement: 41525_2022_283_MOESM4_ESM.xlsx › Novel_Previously_described_var.

De Novo and Rare Variants at Multiple Loci Support the Oligogenic Origins of Atrioventricular Septal Heart Defects.

Priest JR et al.

Plos Genetics, 2016

Using exome data to identify malignant hyperthermia susceptibility mutations.

Gonsalves SG et al.

Anesthesiology, 2013

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."