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Browsing Faculty Publications (Medical Sciences) by Author "Asuri, Sirisha"

Browsing Faculty Publications (Medical Sciences) by Author "Asuri, Sirisha"

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  • KCNQ1 p.L353L affects splicing and modifies the phenotype in a founder population with long QT syndrome type 1 
    Kapplinger, Jamie; Erickson, Anders; Asuri, Sirisha; Tester, David J.; McIntosh, Sarah; Kerr, Charles R.; Morrison, Julie; Tang, Anthony; Sanatani, Shubhayan; Arbour, Laura; Ackerman, Michael J. (Journal of Medical Genetics, 2017)
    Background Variable expressivity and incomplete penetrance between individuals with identical long QT syndrome (LQTS) causative mutations largely remain unexplained. Founder populations provide a unique opportunity to ...

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