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The blended phenotype of a germline RIT1 and a mosaic PIK3CA variant.
Berland, Siren; Jareld, Jørgen; Hickson, Nicholas; Schlecht, Helene; Houge, Gunnar; Douzgou, Sofia.
Affiliation
  • Berland S; Department of Medical Genetics, Haukeland University Hospital, N-5021, Bergen, Norway.
  • Jareld J; Department of Paediatrics, Ålesund Hospital, Møre and Romsdal Health Trust, 6026, Ålesund, Norway.
  • Hickson N; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre, Oxford Road, M13 9WL, United Kingdom.
  • Schlecht H; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre, Oxford Road, M13 9WL, United Kingdom.
  • Houge G; Department of Medical Genetics, Haukeland University Hospital, N-5021, Bergen, Norway.
  • Douzgou S; Division of Evolution and Genomic Sciences, School of Biological Sciences, University of Manchester, Oxford Road, M13 9PL, United Kingdom.
Cold Spring Harb Mol Case Stud ; 7(6)2021 12.
Article in En | MEDLINE | ID: mdl-34887308
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Phosphatidylinositol 3-Kinases / Germ Cells Type of study: Prognostic_studies Limits: Humans Language: En Journal: Cold Spring Harb Mol Case Stud Year: 2021 Document type: Article Affiliation country: Country of publication:
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Phosphatidylinositol 3-Kinases / Germ Cells Type of study: Prognostic_studies Limits: Humans Language: En Journal: Cold Spring Harb Mol Case Stud Year: 2021 Document type: Article Affiliation country: Country of publication: