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

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

Author: Bury, Loredana; Megy, Karyn; Stephens, Jonathan C.; Grassi, Luigi; Greene, Daniel; Gleadall, Nick; Althaus, Karina; Allsup, David; Bariana, Tadbir K.; Bonduel, Mariana; Butta, Nora, V; Collins, Peter; Curry, Nicola; Deevi, Sri V. V.; Downes, Kate; Duarte, Daniel; Elliott, Kim; Falcinelli, Emanuela; Furie, Bruce; Keeling, David; Lambert, Michele P.; Linger, Rachel; Mangles, Sarah; Mapeta, Rutendo; Millar, Carolyn M.; Penkett, Christopher; Perry, David J.; Stirrups, Kathleen E.; Turro, Ernest; Westbury, Sarah K.; Wu, John; Gomez, Keith; Freson, Kathleen; Ouwehand, Willem H.; Gresele, Paolo; Simeoni, Ilenia
Tübinger Autor(en):
Althaus, Karina
Gomez, Keith
Published in: Human Mutation (2019), Bd. 41, H. 1, S. 277-290
Verlagsangabe: Wiley
Language: English
Full text: http://dx.doi.org/10.1002/humu.23927
ISSN: 1098-1004
DDC Classifikation: 570 - Life sciences; biology
610 - Medicine and health
Dokumentart: Artikel
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