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Article

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

Pharmacogenetics and genomics - 1 Feb 2025

Roberts David A, Bastarache Lisa, He Jing, Lewis Adam, Aka Ida T, Shotwell Matthew S, Reddy Srijaya K, Hogan Kirk J, Biesecker Leslie G, Kertai Miklos D

Abstract excerpt

OBJECTIVES: We aimed to classify genetic variants in RYR1 and CACNA1S associated with malignant hyperthermia using biobank genotyping data in patients exposed to triggering anesthetics without malignant hyperthermia phenotype. METHODS: We identified individuals who underwent surgery and were exposed to triggering anesthetics without malignant hyperthermia phenotype and who had RYR1 or CACNA1S genotyping data...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 39745345
DOI: 10.1097/FPC.0000000000000551
PMCID: PMC11695055

Genes

CACNA1S
RYR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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