Article
Assessment of the predictive accuracy of five in silico prediction tools, alone or in combination, and two metaservers to classify long QT syndrome gene mutations.
BMC medical genetics - 13 May 2015
Leong Ivone U S, Stuckey Alexander, Lai Daniel, Skinner Jonathan R, Love Donald R
Abstract excerpt
BACKGROUND: Long QT syndrome (LQTS) is an autosomal dominant condition predisposing to sudden death from malignant arrhythmia. Genetic testing identifies many missense single nucleotide variants of uncertain pathogenicity. Establishing genetic pathogenicity is an essential prerequisite to family...
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