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Systematic analysis of paralogous regions in 41,755 exomes uncovers clinically relevant variation.
Steyaert, Wouter; Haer-Wigman, Lonneke; Pfundt, Rolph; Hellebrekers, Debby; Steehouwer, Marloes; Hampstead, Juliet; de Boer, Elke; Stegmann, Alexander; Yntema, Helger; Kamsteeg, Erik-Jan; Brunner, Han; Hoischen, Alexander; Gilissen, Christian.
Affiliation
  • Steyaert W; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Geert Grooteplein 10, 6525, GA, Nijmegen, The Netherlands.
  • Haer-Wigman L; Radboud Institute for Molecular Life Sciences, Nijmegen, Netherlands.
  • Pfundt R; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Geert Grooteplein 10, 6525, GA, Nijmegen, The Netherlands.
  • Hellebrekers D; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Geert Grooteplein 10, 6525, GA, Nijmegen, The Netherlands.
  • Steehouwer M; Maastricht University Medical Center + , Department of Clinical Genetics, Maastricht, Netherlands.
  • Hampstead J; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Geert Grooteplein 10, 6525, GA, Nijmegen, The Netherlands.
  • de Boer E; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Geert Grooteplein 10, 6525, GA, Nijmegen, The Netherlands.
  • Stegmann A; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Geert Grooteplein 10, 6525, GA, Nijmegen, The Netherlands.
  • Yntema H; Radboud University, Donders Institute for Brain, Cognition and Behaviour, Nijmegen, Netherlands.
  • Kamsteeg EJ; Maastricht University Medical Center + , Department of Clinical Genetics, Maastricht, Netherlands.
  • Brunner H; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Geert Grooteplein 10, 6525, GA, Nijmegen, The Netherlands.
  • Hoischen A; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Geert Grooteplein 10, 6525, GA, Nijmegen, The Netherlands.
  • Gilissen C; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Geert Grooteplein 10, 6525, GA, Nijmegen, The Netherlands.
Nat Commun ; 14(1): 6845, 2023 10 27.
Article in En | MEDLINE | ID: mdl-37891200
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Polymorphism, Single Nucleotide / Exome Limits: Humans Language: En Journal: Nat Commun Journal subject: BIOLOGIA / CIENCIA Year: 2023 Document type: Article Affiliation country: Países Bajos Country of publication: Reino Unido
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Polymorphism, Single Nucleotide / Exome Limits: Humans Language: En Journal: Nat Commun Journal subject: BIOLOGIA / CIENCIA Year: 2023 Document type: Article Affiliation country: Países Bajos Country of publication: Reino Unido