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Roberts et al., 2025 - Google Patents

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

Roberts et al., 2025

Document ID
14455688038298568641
Author
Roberts D
Bastarache L
He J
Lewis A
Aka I
Shotwell M
Reddy S
Hogan K
Biesecker L
Kertai M
Publication year
Publication venue
Pharmacogenetics and Genomics

External Links

Snippet

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 …
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Classifications

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    • G06F19/32—Medical data management, e.g. systems or protocols for archival or communication of medical images, computerised patient records or computerised general medical references
    • G06F19/322—Management of patient personal data, e.g. patient records, conversion of records or privacy aspects
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    • G06F19/22—Bioinformatics, i.e. methods or systems for genetic or protein-related data processing in computational molecular biology for sequence comparison involving nucleotides or amino acids, e.g. homology search, motif or SNP [Single-Nucleotide Polymorphism] discovery or sequence alignment
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