Incidence of mosaicism in 1055 de novo NF2 cases: much higher than previous estimates with high utility of next-generation sequencing
Evans, D. Gareth; Hartley, Claire L.; Smith, Philip T.; King, Andrew T.; Bowers, Naomi L.; Tobi, Simon; Wallace, Andrew J.; Perry, Mary; Anup, Raji; Lloyd, Simon K. W.; Rutherford, Scott A.; Hammerbeck-Ward, Charlotte; Pathmanaban, Omar N.; Stapleton, Emma; Freeman, Simon R.; Kellett, Mark; Halliday, Dorothy; Parry, Allyson; Gair, Juliette J.; Axon, Patrick; Laitt, Roger; Thomas, Owen; Afridi, Shazia K.; Obholzer, Rupert; Duff, Chris; Stivaros, Stavros M.; Vassallo, Grace; Harkness, Elaine F.; Smith, Miriam J.
- 期刊名称Genetics in Medicine
- 作者Evans, D. Gareth; Hartley, Claire L.; Smith, Philip T.; King, Andrew T.; Bowers, Naomi L.; Tobi, Simon; Wallace, Andrew J.; Perry, Mary; Anup, Raji; Lloyd, Simon K. W.; Rutherford, Scott A.; Hammerbeck-Ward, Charlotte; Pathmanaban, Omar N.; Stapleton, Emma; Freeman, Simon R.; Kellett, Mark; Halliday, Dorothy; Parry, Allyson; Gair, Juliette J.; Axon, Patrick; Laitt, Roger; Thomas, Owen; Afridi, Shazia K.; Obholzer, Rupert; Duff, Chris; Stivaros, Stavros M.; Vassallo, Grace; Harkness, Elaine F.; Smith, Miriam J.
- 印刷ISSN1098-3600
- 电子ISSN1530-0366
- 文件大小383.51KB
- 发表时间2019-7-5
- DOI10.1038/s41436-019-0598-7