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Title
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Overrepresentation of genetic variation in the AnkyrinG interactome is related to a range of neurodevelopmental disorders
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Author
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Abstract
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| Upon the discovery of numerous genes involved in the pathogenesis of neurodevelopmental disorders, several studies showed that a significant proportion of these genes converge on common pathways and protein networks. Here, we used a reversed approach, by screening the AnkyrinG protein-protein interaction network for genetic variation in a large cohort of 1009 cases with neurodevelopmental disorders. We identified a significant enrichment of de novo potentially disease-causing variants in this network, confirming that this protein network plays an important role in the emergence of several neurodevelopmental disorders. |
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Language
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English
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Source (journal)
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European journal of human genetics / European Society of Human Genetics. - Leiden
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Publication
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London
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Nature publishing group
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2020
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ISSN
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1018-4813
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DOI
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10.1038/S41431-020-0682-0
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Volume/pages
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p. 1-8
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ISI
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000547216100001
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Pubmed ID
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32651551
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Full text (Publisher's DOI)
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Full text (publisher's version - intranet only)
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