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Re-evaluation of missense variant classifications in NF2.
Sadler, Katherine V; Rowlands, Charlie F; Smith, Philip T; Hartley, Claire L; Bowers, Naomi L; Roberts, Nicola Y; Harris, Jade L; Wallace, Andrew J; Evans, D Gareth; Messiaen, Ludwine M; Smith, Miriam J.
Afiliação
  • Sadler KV; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester Academic Health Sciences Centre (MAHSC), Manchester, UK.
  • Rowlands CF; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.
  • Smith PT; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester Academic Health Sciences Centre (MAHSC), Manchester, UK.
  • Hartley CL; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.
  • Bowers NL; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester Academic Health Sciences Centre (MAHSC), Manchester, UK.
  • Roberts NY; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester Academic Health Sciences Centre (MAHSC), Manchester, UK.
  • Harris JL; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester Academic Health Sciences Centre (MAHSC), Manchester, UK.
  • Wallace AJ; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester Academic Health Sciences Centre (MAHSC), Manchester, UK.
  • Evans DG; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester Academic Health Sciences Centre (MAHSC), Manchester, UK.
  • Messiaen LM; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester Academic Health Sciences Centre (MAHSC), Manchester, UK.
  • Smith MJ; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester Academic Health Sciences Centre (MAHSC), Manchester, UK.
Hum Mutat ; 43(5): 643-654, 2022 05.
Article em En | MEDLINE | ID: mdl-35332608

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Genes da Neurofibromatose 2 / Neurofibromina 2 Tipo de estudo: Guideline / Prognostic_studies Limite: Humans Idioma: En Revista: Hum Mutat Assunto da revista: GENETICA MEDICA Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Reino Unido

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Genes da Neurofibromatose 2 / Neurofibromina 2 Tipo de estudo: Guideline / Prognostic_studies Limite: Humans Idioma: En Revista: Hum Mutat Assunto da revista: GENETICA MEDICA Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Reino Unido