Varaico: Literature-Extracted Genetic Variants

Gene:RYR1
Variant:p.L32F
Back to variants list

RYR1

NM_000540.3:p.L32F

Associated Papers

Updating probability of pathogenicity for RYR1 and CACNA1S exon variants in individuals without malignant hyperthermia after exposure to triggering anesthetics.

Roberts DA et al.

Pharmacogenetics and Genomics, 2025

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.

SNiPORK - a microarray of SNPs in candidate genes potentially associated with pork yield and quality - development and validation in commercial breeds.

Kaminski S et al.

Animal Biotechnology, 2008

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."