Next-generation sequencing for the diagnosis of MYH9-RD: Predicting pathogenic variants

Loredana Bury, Karyn Megy, Jonathan C. Stephens, Luigi Grassi, Daniel Greene, Nick Gleadall, Karina Althaus, David Allsup, Tadbir K. Bariana, Mariana Bonduel, Nora V. Butta, Peter Collins, Nicola Curry, Sri V.V. Deevi, Kate Downes, Daniel Duarte, Kim Elliott, Emanuela Falcinelli, Bruce Furie, David KeelingMichele P. Lambert, Rachel Linger, Sarah Mangles, Rutendo Mapeta, Carolyn M. Millar, Christopher Penkett, David J. Perry, Kathleen E. Stirrups, Ernest Turro, Sarah K. Westbury, John Wu, N. I.H.R. BioResource, Keith Gomez, Kathleen Freson, Willem H. Ouwehand, Paolo Gresele, Ilenia Simeoni

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Keyphrases

Medicine and Dentistry

Biochemistry, Genetics and Molecular Biology