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The effect of a single SMARCA4 exon deletion on RNA splicing: Implications for variant classification.
Byrjalsen, Anna; Stoltze, Ulrik; Mehrjouy, Mana; Frederiksen, Jane Hübertz; Bak, Mads; Birkedal, Ulf; Hasle, Henrik; Gerdes, Anne-Marie; Schmiegelow, Kjeld; Wadt, Karin; Hansen, Thomas van Overeem.
Afiliação
  • Byrjalsen A; Department of Clinical Genetics, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.
  • Stoltze U; Department of Pediatrics and Adolescent Medicine, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.
  • Mehrjouy M; Department of Pediatrics and Adolescent Medicine, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.
  • Frederiksen JH; Department of Clinical Genetics, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.
  • Bak M; Department of Clinical Genetics, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.
  • Birkedal U; Department of Clinical Genetics, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.
  • Hasle H; Department of Pediatrics, Aarhus University Hospital, Aarhus N, Denmark.
  • Gerdes AM; Department of Clinical Genetics, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.
  • Schmiegelow K; Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.
  • Wadt K; Department of Pediatrics and Adolescent Medicine, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.
  • Hansen TVO; Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.
Mol Genet Genomic Med ; 11(10): e2232, 2023 Oct.
Article em En | MEDLINE | ID: mdl-37430472
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: Mol Genet Genomic Med Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Dinamarca
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: Mol Genet Genomic Med Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Dinamarca