Paralogous annotation of disease-causing variants in long QT syndrome genes

Human Mutation

Volumn 33, Issue 8, 2012, Pages 1188-1191

  Ware, James S ^a   Walsh, Roddy ^b   Cunningham, Fiona ^c   Birney, Ewan ^c   Cook, Stuart A ^a,b  

^a IMPERIAL COLLEGE LONDON   (United Kingdom)

^b ROYAL BROMPTON AND HAREFIELD NHS FOUNDATION TRUST   (United Kingdom)

^c EUROPEAN BIOINFORMATICS INSTITUTE   (United Kingdom)

Author keywords

Inherited heart disease; Long QT syndrome; Nonsynonymous; Paralogue; Variant annotation

Indexed keywords

ARTICLE; BIOINFORMATICS; BRUGADA SYNDROME; GENE; GENE LOCUS; GENETIC VARIABILITY; HUMAN; LONG QT SYNDROME; LOSS OF FUNCTION MUTATION; MOLECULAR GENETICS; PHENOTYPE; PREDICTIVE VALUE; PRIORITY JOURNAL; SEQUENCE ALIGNMENT; SINGLE NUCLEOTIDE POLYMORPHISM; SUDDEN DEATH;

CHROMOSOME MAPPING; COMPUTATIONAL BIOLOGY; HUMANS; LONG QT SYNDROME; NAV1.5 VOLTAGE-GATED SODIUM CHANNEL;

EID: 84863877251     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22114     Document Type: Article

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