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Publication Detail
Incidence of mosaicism in 1055 de novo NF2 cases: much higher than previous estimates with high utility of next-generation sequencing
  • Publication Type:
    Journal article
  • Publication Sub Type:
    Article
  • Authors:
    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, Duff C, Stivaros SM, Vassallo G, Harkness EF, Smith MJ, Axon P, Gair J, Tysome J, Donnelly N, Raymond L, Hensiek A, Jena R, Macfarlane R, Mannion R, Nicholson J, Muthusamy B, Taylor A, Price R, Rands G, Gamazo N, Vanat Z, Scoffings D, Jefferies S, Knight R, Lamb T, Tam YC, Foweraker K, Harris F, Sanghera P, Meade S, Irving R, Monksfield P, Sharif S, Ragge N, Murrell M, Barwell J, English M, Doherty G, Trivedi R, Patterson I, Afridi SK, Ferner RE, Obholzer R, Williams V, Hammond C, Lascelles K, Skilbeck C, Saeed S, Shaw A, Swampillai A, Thomson S, Thomas N, Maratos E, Barazi S, Mullin R, Henley S, Trump S, Everett V, Nunn T, Nduka C, Evans DG, Anup R, Duff C, Freeman SR, Stapleton E, Jarvis N, Kamaly-Asl I, King AT, Kellett M, Kilday J-P, Lloyd SK, Malluci C, Mawman D, McBain C, Laitt R, O'Driscoll M, McCabe M, Perry M, Rutherford SA, Henshaw K, Stivaros SM, Thomas O, Vassallo G, Hammerbeck-Ward CL, Pathmanaban ON, Kurian J, Hobbs C, Browne K, Castle B, Crabtree R, Cogswell L, Dalton L, Dodridge C, Emmanouil B, Giele H, Halliday D, Halliday J, Hanemann CO, Howard W, Kerr R, Mace E, MacKeith S, Parry A, Pretorius P, Ramsden J, Redman C, Sharma S, Taylor R, Tomkins H, Wilson S, Woolrich R
  • Publisher:
    NATURE PUBLISHING GROUP
  • Publication date:
    01/01/2020
  • Pagination:
    53, 59
  • Journal:
    GENETICS IN MEDICINE
  • Volume:
    22
  • Issue:
    1
  • Status:
    Published
  • Print ISSN:
    1098-3600
  • Language:
    English
  • Keywords:
    Science & Technology, Life Sciences & Biomedicine, Genetics & Heredity, neurofibromatosis type 2, schwannoma, mosaicism, NF2, LZTR1, TUMOR-PRONE SYNDROMES, NEUROFIBROMATOSIS TYPE-2, DIAGNOSTIC-CRITERIA, SOMATIC MOSAICISM, MUTATION, REARRANGEMENTS, PREVALENCE, PREDICTORS, MORTALITY, GERMLINE
Abstract
No abstract found
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