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De novo mutation hotspots in homologous protein domains identify function-altering mutations in neurodevelopmental disorders
Institution:1. Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen 6525 GA, the Netherlands;2. Centre for Molecular and Biomolecular Informatics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen 6525 GA, the Netherlands;3. Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen 6525 GA, the Netherlands;4. Baco Institute of Protein Science, Baco, 5201 Mindoro, Philippines;5. Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK;6. Department of Medicine, Division of Cardiovascular Medicine, School of Medicine, Stanford University, Stanford, CA, USA
Abstract:
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  • Keywords:mutational hotspot detection  homologous protein domains  disease-gene identification  developmental disorders  variant interpretation  pathogenicity  function-altering  gain-of-function  gene expression
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