A deep intronic variant in DNM1 in a patient with developmental and epileptic encephalopathy creates a splice acceptor site and affects only transcript variants including exon 10a.
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| Title: | A deep intronic variant in DNM1 in a patient with developmental and epileptic encephalopathy creates a splice acceptor site and affects only transcript variants including exon 10a. |
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| Authors: | Harms FL; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Martinistraße 52, 20246, Hamburg, Germany., Weiss D; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Lisfeld J; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Martinistraße 52, 20246, Hamburg, Germany., Alawi M; Bioinformatics Core, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Kutsche K; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Martinistraße 52, 20246, Hamburg, Germany. kkutsche@uke.de. |
| Source: | Neurogenetics [Neurogenetics] 2023 Jul; Vol. 24 (3), pp. 171-180. Date of Electronic Publication: 2023 Apr 11. |
| Publication Type: | Journal Article; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: Springer-Verlag Country of Publication: United States NLM ID: 9709714 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1364-6753 (Electronic) Linking ISSN: 13646745 NLM ISO Abbreviation: Neurogenetics Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1364-6753 |
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| DOI: | 10.1007/s10048-023-00716-w |
