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SEPT-GD: A decision tree to prioritise potential RNA splice variants in cardiomyopathy genes for functional splicing assays in diagnostics.
Alimohamed, Mohamed Z; Boven, Ludolf G; van Dijk, Krista K; Vos, Yvonne J; Hoedemaekers, Yvonne M; van der Zwaag, Paul A; Sijmons, Rolf H; Jongbloed, Jan D H; Sikkema-Raddatz, Birgit; Westers, Helga.
Afiliação
  • Alimohamed MZ; University of Groningen, University Medical Center Groningen, Department of Genetics, The Netherlands; Department of Haematology and Blood Transfusion, Muhimbili University of Health and Allied Sciences, Dar-es-Salaam, Tanzania; Department of Research and Training, Shree Hindu Mandal Hospital, Dar-e
  • Boven LG; University of Groningen, University Medical Center Groningen, Department of Genetics, The Netherlands.
  • van Dijk KK; University of Groningen, University Medical Center Groningen, Department of Genetics, The Netherlands.
  • Vos YJ; University of Groningen, University Medical Center Groningen, Department of Genetics, The Netherlands.
  • Hoedemaekers YM; University of Groningen, University Medical Center Groningen, Department of Genetics, The Netherlands; Radboud University Medical Center Nijmegen, Department of Genetics, The Netherlands.
  • van der Zwaag PA; University of Groningen, University Medical Center Groningen, Department of Genetics, The Netherlands.
  • Sijmons RH; University of Groningen, University Medical Center Groningen, Department of Genetics, The Netherlands.
  • Jongbloed JDH; University of Groningen, University Medical Center Groningen, Department of Genetics, The Netherlands.
  • Sikkema-Raddatz B; University of Groningen, University Medical Center Groningen, Department of Genetics, The Netherlands.
  • Westers H; University of Groningen, University Medical Center Groningen, Department of Genetics, The Netherlands. Electronic address: h.westers@umcg.nl.
Gene ; 851: 146984, 2023 Jan 30.
Article em En | MEDLINE | ID: mdl-36270459
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Contexto em Saúde: 1_ASSA2030 Problema de saúde: 1_financiamento_saude Assunto principal: Sítios de Splice de RNA / Cardiomiopatias Limite: Humans Idioma: En Revista: Gene Ano de publicação: 2023 Tipo de documento: Article
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Contexto em Saúde: 1_ASSA2030 Problema de saúde: 1_financiamento_saude Assunto principal: Sítios de Splice de RNA / Cardiomiopatias Limite: Humans Idioma: En Revista: Gene Ano de publicação: 2023 Tipo de documento: Article