Incidence of mosaicism in 1055 de novo NF2 cases: much higher than previous estimates with high utility of next-generation sequencing.
Evans DG, Hartley CL, Smith PT, King AT, Bowers NL, Tobi S, Wallace AJ, Perry M, Anup R, Lloyd SKW, Rutherford SA, Hammerbeck-Ward C, Pathmanaban ON, Stapleton E, Freeman SR, Kellett M, Halliday D, Parry A, Gair JJ, Axon P, Laitt R, Thomas O, Afridi SK, Obholzer R; English Specialist NF research group; Duff C, Stivaros SM, Vassallo G, Harkness EF, Smith MJ.
Evans DG, et al. Among authors: lloyd skw.
Genet Med. 2020 Jan;22(1):53-59. doi: 10.1038/s41436-019-0598-7. Epub 2019 Jul 5.
Genet Med. 2020.
PMID: 31273341
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