Article

Genetic modifiers of rare variants in monogenic developmental disorder loci

2022-12-16

Abstract excerpt

<h4>ABSTRACT</h4> Rare damaging variants in a large number of genes are known to cause monogenic developmental disorders (DD), and have been shown to cause milder sub-clinical phenotypes in population cohorts. To investigate potential genetic modifiers, we identified individuals in UK Biobank with predicted deleterious variants in 599 autosomal dominant DD genes, and found that carrying multiple rare variants in t...

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Literature Corpus work: 2f5c50d7-492f-51b6-b9d4-23f6226d9493
DOI: 10.1101/2022.12.15.22283523

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