Investigating the role of common cis-regulatory variants in modifying penetrance of putatively damag...
Investigating the role of common cis-regulatory variants in modifying penetrance of putatively damaging, inherited variants in severe neurodevelopmental disorders
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London: Nature Publishing Group UK
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English
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London: Nature Publishing Group UK
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Recent work has revealed an important role for rare, incompletely penetrant inherited coding variants in neurodevelopmental disorders (NDDs). Additionally, we have previously shown that common variants contribute to risk for rare NDDs. Here, we investigate whether common variants exert their effects by modifying gene expression, using multi-
cis...
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Investigating the role of common cis-regulatory variants in modifying penetrance of putatively damaging, inherited variants in severe neurodevelopmental disorders
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TN_cdi_doaj_primary_oai_doaj_org_article_c0f75227db5d4c79801f5124d7f09ecb
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_c0f75227db5d4c79801f5124d7f09ecb
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ISSN
2045-2322
E-ISSN
2045-2322
DOI
10.1038/s41598-024-58894-y
