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Detection of mobile elements insertions for routine clinical diagnostics in targeted sequencing data.
Demidov, German; Park, Joohyun; Armeanu-Ebinger, Sorin; Roggia, Cristiana; Faust, Ulrike; Cordts, Isabell; Blandfort, Maria; Haack, Tobias B; Schroeder, Christopher; Ossowski, Stephan.
  • Demidov G; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
  • Park J; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
  • Armeanu-Ebinger S; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
  • Roggia C; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
  • Faust U; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
  • Cordts I; Department of Neurology, Klinikum Rechts der Isar, Technical University Munich, Munich, Germany.
  • Blandfort M; Neuropediatrics and Medical Genetics, Landau, Germany.
  • Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
  • Schroeder C; Centre for Rare Diseases, University of Tübingen, Tübingen, Germany.
  • Ossowski S; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
Mol Genet Genomic Med ; 9(12): e1807, 2021 12.
Article en En | MEDLINE | ID: mdl-34491624
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Elementos Transponibles de ADN / Pruebas Genéticas / Mutagénesis Insercional / Pruebas Diagnósticas de Rutina Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Humans Idioma: En Año: 2021 Tipo del documento: Article
Texto completo
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XML
PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Elementos Transponibles de ADN / Pruebas Genéticas / Mutagénesis Insercional / Pruebas Diagnósticas de Rutina Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Humans Idioma: En Año: 2021 Tipo del documento: Article