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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

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 cas...

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Pubblicato in:BMC Med Genet
Autori principali: Leong, Ivone US, Stuckey, Alexander, Lai, Daniel, Skinner, Jonathan R, Love, Donald R
Natura: Artigo
Lingua:Inglês
Pubblicazione: BioMed Central 2015
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4630850/
https://ncbi.nlm.nih.gov/pubmed/25967940
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-015-0176-z
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