Genome Aggregation Database Version 4-Allele Frequency Changes and Impact on Variant Interpretation in Dystonia.
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| Title: | Genome Aggregation Database Version 4-Allele Frequency Changes and Impact on Variant Interpretation in Dystonia. |
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| Authors: | Indelicato E; Center for Rare Movement Disorders Innsbruck, Department of Neurology, Medical University Innsbruck, Innsbruck, Austria.; Institute of Neurogenomics, Helmholtz Munich, Neuherberg, Germany.; Institute of Human Genetics, Technical University of Munich, School of Medicine and Health, Munich, Germany., Eberl A; Center for Rare Movement Disorders Innsbruck, Department of Neurology, Medical University Innsbruck, Innsbruck, Austria., Boesch S; Center for Rare Movement Disorders Innsbruck, Department of Neurology, Medical University Innsbruck, Innsbruck, Austria., Lange LM; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.; Department of Neurology, University Hospital Schleswig-Holstein, Luebeck, Germany., Klein C; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.; Department of Neurology, University Hospital Schleswig-Holstein, Luebeck, Germany., Lohmann K; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany., Zech M; Institute of Neurogenomics, Helmholtz Munich, Neuherberg, Germany.; Institute of Human Genetics, Technical University of Munich, School of Medicine and Health, Munich, Germany.; Institute for Advanced Study, Technical University of Munich, Garching, Germany. |
| Source: | Movement disorders : official journal of the Movement Disorder Society [Mov Disord] 2025 Feb; Vol. 40 (2), pp. 357-362. Date of Electronic Publication: 2024 Nov 21. |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: Wiley-Liss Country of Publication: United States NLM ID: 8610688 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1531-8257 (Electronic) Linking ISSN: 08853185 NLM ISO Abbreviation: Mov Disord Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 39569852 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Genome Aggregation Database Version 4-Allele Frequency Changes and Impact on Variant Interpretation in Dystonia. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Indelicato+E%22">Indelicato E</searchLink>; Center for Rare Movement Disorders Innsbruck, Department of Neurology, Medical University Innsbruck, Innsbruck, Austria.; Institute of Neurogenomics, Helmholtz Munich, Neuherberg, Germany.; Institute of Human Genetics, Technical University of Munich, School of Medicine and Health, Munich, Germany.<br /><searchLink fieldCode="AU" term="%22Eberl+A%22">Eberl A</searchLink>; Center for Rare Movement Disorders Innsbruck, Department of Neurology, Medical University Innsbruck, Innsbruck, Austria.<br /><searchLink fieldCode="AU" term="%22Boesch+S%22">Boesch S</searchLink>; Center for Rare Movement Disorders Innsbruck, Department of Neurology, Medical University Innsbruck, Innsbruck, Austria.<br /><searchLink fieldCode="AU" term="%22Lange+LM%22">Lange LM</searchLink>; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.; Department of Neurology, University Hospital Schleswig-Holstein, Luebeck, Germany.<br /><searchLink fieldCode="AU" term="%22Klein+C%22">Klein C</searchLink>; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.; Department of Neurology, University Hospital Schleswig-Holstein, Luebeck, Germany.<br /><searchLink fieldCode="AU" term="%22Lohmann+K%22">Lohmann K</searchLink>; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.<br /><searchLink fieldCode="AU" term="%22Zech+M%22">Zech M</searchLink>; Institute of Neurogenomics, Helmholtz Munich, Neuherberg, Germany.; Institute of Human Genetics, Technical University of Munich, School of Medicine and Health, Munich, Germany.; Institute for Advanced Study, Technical University of Munich, Garching, Germany. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%228610688%22">Movement disorders : official journal of the Movement Disorder Society</searchLink> [Mov Disord] 2025 Feb; Vol. 40 (2), pp. 357-362. <i>Date of Electronic Publication: </i>2024 Nov 21. – Name: TypePub Label: Publication Type Group: TypPub Data: Journal Article – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Wiley-Liss%22">Wiley-Liss </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>8610688 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1531-8257 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2208853185%22">08853185 </searchLink><i>NLM ISO Abbreviation: </i>Mov Disord <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=39569852 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1002/mds.30066 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 357 Titles: – TitleFull: Genome Aggregation Database Version 4-Allele Frequency Changes and Impact on Variant Interpretation in Dystonia. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Indelicato E – PersonEntity: Name: NameFull: Eberl A – PersonEntity: Name: NameFull: Boesch S – PersonEntity: Name: NameFull: Lange LM – PersonEntity: Name: NameFull: Klein C – PersonEntity: Name: NameFull: Lohmann K – PersonEntity: Name: NameFull: Zech M IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 02 Text: 2025 Feb Type: published Y: 2025 Identifiers: – Type: issn-electronic Value: 1531-8257 Numbering: – Type: volume Value: 40 – Type: issue Value: 2 Titles: – TitleFull: Movement disorders : official journal of the Movement Disorder Society Type: main |
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