Comparison of pathogenicity prediction tools on missense variants in RYR1 and CACNA1S associated with malignant hyperthermia

British Journal of Anaesthesia

Volumn 117, Issue 1, 2016, Pages 124-128

  Schiemann, A H ^a   Stowell, K M ^a  

^a MASSEY UNIVERSITY   (New Zealand)

Author keywords

Bioinformatics; Malignant hyperthermia; Prediction; Variants

Indexed keywords

1,4 DIHYDROPYRIDINE RECEPTOR; ALPHA1S SUBUNIT OF THE VOLTAGE DEPENDENT L TYPE CALCIUM CHANNEL; CALCIUM CHANNEL L TYPE; GENOMIC DNA; PROTEIN; RYANODINE RECEPTOR 1; UNCLASSIFIED DRUG; CACNA1S PROTEIN, HUMAN; CALCIUM CHANNEL; RYANODINE RECEPTOR;

ARTICLE; CALCIUM TRANSPORT; GENETIC ASSOCIATION; GENETIC VARIABILITY; HUMAN; HUMAN CELL; MALIGNANT HYPERTHERMIA; MISSENSE MUTATION; NEXT GENERATION SEQUENCING; PATHOGENICITY; PREDICTION; PRIORITY JOURNAL; PROTEIN FUNCTION; SENSITIVITY AND SPECIFICITY; SINGLE NUCLEOTIDE POLYMORPHISM; BIOLOGY; COMPARATIVE STUDY; DNA SEQUENCE; GENETICS; PROCEDURES; REPRODUCIBILITY; SOFTWARE;

CALCIUM CHANNELS; COMPUTATIONAL BIOLOGY; HUMANS; MALIGNANT HYPERTHERMIA; MUTATION, MISSENSE; REPRODUCIBILITY OF RESULTS; RYANODINE RECEPTOR CALCIUM RELEASE CHANNEL; SENSITIVITY AND SPECIFICITY; SEQUENCE ANALYSIS, DNA; SOFTWARE;

EID: 84977090879     PISSN: 00070912     EISSN: 14716771     Source Type: Journal    
DOI: 10.1093/bja/aew065     Document Type: Article

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