Article
Genetic subtypes, allelic effects, and convergent neurodevelopmental mechanisms.
Genome medicine - 7 Jun 2021
Das Maitreya, Girirajan Santhosh
Abstract excerpt
High-throughput sequencing of large affected cohorts have helped uncover a plethora of risk genes for complex neurodevelopmental disorders. However, untangling complex disease etiology also involves understanding the functional consequences of these mutations in order to connect risk variants to resulting phenotypes. Here, we highlight the efforts of Mannucci and colleagues to define a novel molecular subtype of...
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