Article
Two‑gene mutation in a single patient: Biochemical and functional analysis for a correct interpretation of exome results.
Molecular medicine reports - 1 Oct 2015
Bianco Anna Monica, Faletra Flavio, Vozzi Diego, Girardelli Martina, Knowles Alessandra, Tommasini Alberto, Zauli Giorgio, Marcuzzi Annalisa
Abstract excerpt
Next-generation sequencing (NGS) has generated a large amount of sequence data with the requirement of frequent critical revisions of reported mutations. This innovative tool has proved to be effective in detecting pathogenic mutations; however, it requires a certain degree of experience to identify incidental findings. In the present study, whole exome sequencing analysis was performed for the molecular...
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