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pro vyhledávání: '"Anamika Kannan"'
Autor:
Carolyn Y. Ho, Sara Saberi, Francesco Mazzarotto, Samuel G. Wittekind, Euan A. Ashley, Sharlene M. Day, James S. Ware, Alexandre C. Pereira, Anamika Kannan, Michelle Michels, Iacopo Olivotto, Jaime Yob, Adam S. Helms, Andrea D. Thompson, Neal K. Lakdawala, Christopher Semsarian, Daniel Jacoby, Steven D. Colan, Jodie Ingles
Publikováno v:
Genetics in Medicine
Genetics in Medicine, 23(7), 1281-1287. Lippincott Williams & Wilkins
Genetics in Medicine, 23(7), 1281-1287. Lippincott Williams & Wilkins
PurposeVariants inMYBPC3causing loss-of-function are the most common cause of HCM. However, a substantial number of patients carry missense variants of uncertain significance (VUS) inMYBPC3.We hypothesize that a structural-based algorithm, STRUM, whi