Articles with "sequencing revealing" as a keyword



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Whole‐Exome Sequencing Revealing De Novo Heterozygous Variant OF KCNT1 in a Twin Discordant for Benign Epilepsy with Centrotemporal Spikes

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Published in 2018 at "Journal of Paediatrics and Child Health"

DOI: 10.1111/jpc.13939

Abstract: 1 Broyles LN, Van Beneden C, Beall B et al. Population-based study of invasive disease due to beta-hemolytic streptococci of groups other than A and B. Clin. Infect. Dis. 2009; 48: 706–12. 2 MacMahon HE,… read more here.

Keywords: exome sequencing; revealing novo; sequencing revealing; heterozygous variant ... See more keywords