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. |
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| 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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