Genetic modifiers of rare variants in monogenic developmental disorder loci
Genetic modifiers of rare variants in monogenic developmental disorder loci
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Publisher
New York: Nature Publishing Group US
Journal title
Language
English
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Publication information
Publisher
New York: Nature Publishing Group US
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Scope and Contents
Contents
Rare damaging variants in a large number of genes are known to cause monogenic developmental disorders (DDs) and have also been shown to cause milder subclinical phenotypes in population cohorts. Here, we show that carrying multiple (2−5) rare damaging variants across 599 dominant DD genes has an additive adverse effect on numerous cognitive and so...
Alternative Titles
Full title
Genetic modifiers of rare variants in monogenic developmental disorder loci
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Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_11096126
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_11096126
Other Identifiers
ISSN
1061-4036,1546-1718
E-ISSN
1546-1718
DOI
10.1038/s41588-024-01710-0
