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SEPT-GD: A decision tree to prioritise potential RNA splice variants in cardiomyopathy genes for functional splicing assays in diagnostics.

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Title: SEPT-GD: A decision tree to prioritise potential RNA splice variants in cardiomyopathy genes for functional splicing assays in diagnostics.
Authors: 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-es-salaam, Tanzania; Tanzania Human Genetics Organization, Dar es salaam, Tanzania. Electronic address: m.z.a.alimohamed@umcg.nl., 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.
Source: Gene [Gene] 2023 Jan 30; Vol. 851, pp. 146984. Date of Electronic Publication: 2022 Oct 18.
Publication Type: Journal Article
Journal Info: Publisher: Elsevier/North-Holland Country of Publication: Netherlands NLM ID: 7706761 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1879-0038 (Electronic) Linking ISSN: 03781119 NLM ISO Abbreviation: Gene Subsets: MEDLINE
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  Data: SEPT-GD: A decision tree to prioritise potential RNA splice variants in cardiomyopathy genes for functional splicing assays in diagnostics.
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  Data: <searchLink fieldCode="AU" term="%22Alimohamed+MZ%22">Alimohamed MZ</searchLink>; 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-es-salaam, Tanzania; Tanzania Human Genetics Organization, Dar es salaam, Tanzania. Electronic address: m.z.a.alimohamed@umcg.nl.<br /><searchLink fieldCode="AU" term="%22Boven+LG%22">Boven LG</searchLink>; University of Groningen, University Medical Center Groningen, Department of Genetics, The Netherlands.<br /><searchLink fieldCode="AU" term="%22van+Dijk+KK%22">van Dijk KK</searchLink>; University of Groningen, University Medical Center Groningen, Department of Genetics, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Vos+YJ%22">Vos YJ</searchLink>; University of Groningen, University Medical Center Groningen, Department of Genetics, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Hoedemaekers+YM%22">Hoedemaekers YM</searchLink>; University of Groningen, University Medical Center Groningen, Department of Genetics, The Netherlands; Radboud University Medical Center Nijmegen, Department of Genetics, The Netherlands.<br /><searchLink fieldCode="AU" term="%22van+der+Zwaag+PA%22">van der Zwaag PA</searchLink>; University of Groningen, University Medical Center Groningen, Department of Genetics, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Sijmons+RH%22">Sijmons RH</searchLink>; University of Groningen, University Medical Center Groningen, Department of Genetics, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Jongbloed+JDH%22">Jongbloed JDH</searchLink>; University of Groningen, University Medical Center Groningen, Department of Genetics, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Sikkema-Raddatz+B%22">Sikkema-Raddatz B</searchLink>; University of Groningen, University Medical Center Groningen, Department of Genetics, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Westers+H%22">Westers H</searchLink>; University of Groningen, University Medical Center Groningen, Department of Genetics, The Netherlands. Electronic address: h.westers@umcg.nl.
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  Data: <searchLink fieldCode="JN" term="%227706761%22">Gene</searchLink> [Gene] 2023 Jan 30; Vol. 851, pp. 146984. <i>Date of Electronic Publication: </i>2022 Oct 18.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Elsevier%2FNorth-Holland%22">Elsevier/North-Holland </searchLink><i>Country of Publication: </i>Netherlands <i>NLM ID: </i>7706761 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1879-0038 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2203781119%22">03781119 </searchLink><i>NLM ISO Abbreviation: </i>Gene <i>Subsets: </i>MEDLINE
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=36270459
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              Text: 2023 Jan 30
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