Associated Papers
Specification of frequency criteria for secondary findings genes to improve variant classification concordance.
Johnston JJ et al.
Biorxiv : the Preprint Server for Biology, 2025
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
A novel CACNA1S gene variant in a child with hypokalemic periodic paralysis: a case report and literature review.
Zhou W et al.
Bmc Pediatrics, 2023
Genetic epidemiology of malignant hyperthermia in the UK.
Miller DM et al.
British Journal of Anaesthesia, 2018
Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.
Laugel-Haushalter V et al.
Frontiers in Physiology, 2018
30319441 (PubMed )
Supplement: Table_1.DOCX
Pharmacogenetics and pathophysiology of CACNA1S mutations in malignant hyperthermia.
Beam TA et al.
Physiological Genomics, 2017
Skeletal Muscle Microalterations in Patients Carrying Malignant Hyperthermia-Related Mutations of the e-c Coupling Machinery.
Lavorato M et al.
European Journal of Translational Myology, 2016
Identification of Medically Actionable Secondary Findings in the 1000 Genomes.
Olfson E et al.
Plos One, 2015
26332594 (PubMed )
Supplement: pone.0135193.s002.xls › Sheet1
A report of fulminant malignant hyperthermia in a patient with a novel mutation of the CACNA1S gene.
Toppin PJ et al.
Canadian Journal of Anaesthesia = Journal Canadien D'anesthesie, 2010
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