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AlphaMissense prediction for the evaluation of missense variants in the diagnostic setting of neuromuscular disorders.

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Title: AlphaMissense prediction for the evaluation of missense variants in the diagnostic setting of neuromuscular disorders.
Authors: Krenn M; Department of Neurology, Medical University of Vienna, Vienna, Austria.; Comprehensive Center for Clinical Neurosciences & Mental Health, Medical University of Vienna, Vienna, Austria., Schmidt A; Institute of Human Genetics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany., Wagner M; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, Munich, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany., Ernst M; Department of Pathobiology of the Nervous System, Center for Brain Research, Medical University of Vienna, Vienna, Austria., Graf E; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, Munich, Germany., Zulehner G; Department of Neurology, Medical University of Vienna, Vienna, Austria.; Comprehensive Center for Clinical Neurosciences & Mental Health, Medical University of Vienna, Vienna, Austria., Cetin H; Department of Neurology, Medical University of Vienna, Vienna, Austria.; Comprehensive Center for Clinical Neurosciences & Mental Health, Medical University of Vienna, Vienna, Austria., Zimprich F; Department of Neurology, Medical University of Vienna, Vienna, Austria.; Comprehensive Center for Clinical Neurosciences & Mental Health, Medical University of Vienna, Vienna, Austria., Rath J; Department of Neurology, Medical University of Vienna, Vienna, Austria.; Comprehensive Center for Clinical Neurosciences & Mental Health, Medical University of Vienna, Vienna, Austria.
Source: Journal of neuromuscular diseases [J Neuromuscul Dis] 2026 Jul; Vol. 13 (4), pp. 769-773. Date of Electronic Publication: 2025 Sep 05.
Publication Type: Journal Article
Journal Info: Publisher: IOS Press Country of Publication: United States NLM ID: 101649948 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2214-3602 (Electronic) Linking ISSN: 22143599 NLM ISO Abbreviation: J Neuromuscul Dis Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: AlphaMissense prediction for the evaluation of missense variants in the diagnostic setting of neuromuscular disorders.
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  Data: <searchLink fieldCode="AU" term="%22Krenn+M%22">Krenn M</searchLink>; Department of Neurology, Medical University of Vienna, Vienna, Austria.; Comprehensive Center for Clinical Neurosciences & Mental Health, Medical University of Vienna, Vienna, Austria.<br /><searchLink fieldCode="AU" term="%22Schmidt+A%22">Schmidt A</searchLink>; Institute of Human Genetics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.<br /><searchLink fieldCode="AU" term="%22Wagner+M%22">Wagner M</searchLink>; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, Munich, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.<br /><searchLink fieldCode="AU" term="%22Ernst+M%22">Ernst M</searchLink>; Department of Pathobiology of the Nervous System, Center for Brain Research, Medical University of Vienna, Vienna, Austria.<br /><searchLink fieldCode="AU" term="%22Graf+E%22">Graf E</searchLink>; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, Munich, Germany.<br /><searchLink fieldCode="AU" term="%22Zulehner+G%22">Zulehner G</searchLink>; Department of Neurology, Medical University of Vienna, Vienna, Austria.; Comprehensive Center for Clinical Neurosciences & Mental Health, Medical University of Vienna, Vienna, Austria.<br /><searchLink fieldCode="AU" term="%22Cetin+H%22">Cetin H</searchLink>; Department of Neurology, Medical University of Vienna, Vienna, Austria.; Comprehensive Center for Clinical Neurosciences & Mental Health, Medical University of Vienna, Vienna, Austria.<br /><searchLink fieldCode="AU" term="%22Zimprich+F%22">Zimprich F</searchLink>; Department of Neurology, Medical University of Vienna, Vienna, Austria.; Comprehensive Center for Clinical Neurosciences & Mental Health, Medical University of Vienna, Vienna, Austria.<br /><searchLink fieldCode="AU" term="%22Rath+J%22">Rath J</searchLink>; Department of Neurology, Medical University of Vienna, Vienna, Austria.; Comprehensive Center for Clinical Neurosciences & Mental Health, Medical University of Vienna, Vienna, Austria.
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  Data: <searchLink fieldCode="JN" term="%22101649948%22">Journal of neuromuscular diseases</searchLink> [J Neuromuscul Dis] 2026 Jul; Vol. 13 (4), pp. 769-773. <i>Date of Electronic Publication: </i>2025 Sep 05.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22IOS+Press%22">IOS Press </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>101649948 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>2214-3602 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2222143599%22">22143599 </searchLink><i>NLM ISO Abbreviation: </i>J Neuromuscul Dis <i>Subsets: </i>MEDLINE
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        Value: 10.1177/22143602251370957
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        Text: English
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              Text: 2026 Jul
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