Next-generation sequencing for the diagnosis of MYH9-RD: Predicting pathogenic variants.
Bury L, Megy K, Stephens JC, Grassi L, Greene D, Gleadall N, Althaus K, Allsup D, Bariana TK, Bonduel M, Butta NV, Collins P, Curry N, Deevi SVV, Downes K, Duarte D, Elliott K, Falcinelli E, Furie B, Keeling D, Lambert MP, Linger R, Mangles S, Mapeta R, Millar CM, Penkett C, Perry DJ, Stirrups KE, Turro E, Westbury SK, Wu J, BioResource N, Gomez K, Freson K, Ouwehand WH, Gresele P, Simeoni I.
Bury L, et al. Among authors: bioresource n.
Hum Mutat. 2020 Jan;41(1):277-290. doi: 10.1002/humu.23927. Epub 2019 Oct 15.
Hum Mutat. 2020.
PMID: 31562665
Free PMC article.