Article
Genome-wide investigation of an ID cohort reveals de novo 3'UTR variants affecting gene expression.
Human genetics - 1 Sept 2018
Devanna Paolo, van de Vorst Maartje, Pfundt Rolph, Gilissen Christian, Vernes Sonja C
Abstract excerpt
Intellectual disability (ID) is a severe neurodevelopmental disorder with genetically heterogeneous causes. Large-scale sequencing has led to the identification of many gene-disrupting mutations; however, a substantial proportion of cases lack a molecular diagnosis. As such, there remains much to uncover for a complete understanding of the genetic underpinnings of ID. Genetic variants present in non-coding...
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