Not to Miss: Intronic Variants, Treatment, and Review of the Phenotypic Spectrum in VPS13D-Related Disorder.
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| Title: | Not to Miss: Intronic Variants, Treatment, and Review of the Phenotypic Spectrum in VPS13D-Related Disorder. |
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| Authors: | Pauly MG; Institute of Neurogenetics, University of Lübeck, 23562 Lübeck, Germany.; Department of Neurology, University Hospital Schleswig Holstein, 23562 Lübeck, Germany.; Institute of Systems Motor Science, University of Lübeck, 23562 Lübeck, Germany., Brüggemann N; Institute of Neurogenetics, University of Lübeck, 23562 Lübeck, Germany.; Department of Neurology, University Hospital Schleswig Holstein, 23562 Lübeck, Germany., Efthymiou S; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK., Grözinger A; Institute of Neurogenetics, University of Lübeck, 23562 Lübeck, Germany., Diaw SH; Institute of Neurogenetics, University of Lübeck, 23562 Lübeck, Germany., Chelban V; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK., Turchetti V; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK., Vona B; Institute for Auditory Neuroscience and InnerEarLab, University Medical Center Göttingen, 37075 Göttingen, Germany.; Institute of Human Genetics, University Medical Center Göttingen, 37073 Göttingen, Germany., Tadic V; Institute of Neurogenetics, University of Lübeck, 23562 Lübeck, Germany.; Department of Neurology, University Hospital Schleswig Holstein, 23562 Lübeck, Germany., Houlden H; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK., Münchau A; Institute of Systems Motor Science, University of Lübeck, 23562 Lübeck, Germany., Lohmann K; Institute of Neurogenetics, University of Lübeck, 23562 Lübeck, Germany. |
| Source: | International journal of molecular sciences [Int J Mol Sci] 2023 Jan 18; Vol. 24 (3). Date of Electronic Publication: 2023 Jan 18. |
| Publication Type: | Review; Journal Article |
| Journal Info: | Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067 (Electronic) Linking ISSN: 14220067 NLM ISO Abbreviation: Int J Mol Sci Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1422-0067 |
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| DOI: | 10.3390/ijms24031874 |
