Article

Combinatorial patterns of gene expression changes contribute to variable expressivity of the developmental delay-associated 16p12.1 deletion

2021-03-08

Abstract excerpt

<h4>ABSTRACT</h4> <h4>Background</h4> Recent studies have suggested that individual variants do not sufficiently explain the variable expressivity of phenotypes observed in complex disorders. For example, the 16p12.1 deletion is associated with developmental delay and neuropsychiatric features in affected individuals, but is inherited in >90% of cases from a mildly-affected parent. While children with the deleti...

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Literature Corpus work: e6fdd731-ca7b-5611-97b8-1049c191a88e
DOI: 10.1101/2021.03.06.434203

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