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

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Bibliographic Details
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
Database: MEDLINE Ultimate
Description
ISSN:1879-0038
DOI:10.1016/j.gene.2022.146984