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Bi-allelic FRA10AC1 variants in a multisystem human syndrome.
Banka, Siddharth; Shalev, Stavit; Park, Soo-Mi; Wood, Katherine A; Thomas, Huw B; Wright, Helen L; Alyahya, Mohammed; Bankier, Sean; Alimi, Ola; Chervinsky, Elena; Zeef, Leo A H; O'Keefe, Raymond T.
Afiliação
  • Banka S; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.
  • Shalev S; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK.
  • Park SM; The Genetics Institute, Emek Medical Center, Afula, Rappaport Faculty of Medicine, Technion, Haifa, Israel.
  • Wood KA; Department of Clinical Genetics, Addenbrooke's Treatment Centre, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.
  • Thomas HB; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.
  • Wright HL; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK.
  • Alyahya M; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.
  • Bankier S; Institute of Life Course and Medical Sciences, University of Liverpool, Liverpool, UK.
  • Alimi O; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.
  • Chervinsky E; Department of Health support services, Ministry of Health, Saudi Arabia.
  • Zeef LAH; Wadi General Hospital, Ministry of Health, Saudi Arabia.
  • O'Keefe RT; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.
Brain ; 145(10): e86-e89, 2022 10 21.
Article em En | MEDLINE | ID: mdl-35871492
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Alelos Limite: Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article
Texto completo
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Alelos Limite: Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article