Genetic subtypes, allelic effects, and convergent neurodevelopmental mechanisms.
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ABSTRACT:
SUBMITTER: Das M
PROVIDER: S-EPMC8182898 | biostudies-literature | 2021 Jun
REPOSITORIES: biostudies-literature
Publications
Genetic subtypes, allelic effects, and convergent neurodevelopmental mechanisms.
Das Maitreya M Girirajan Santhosh S
Genome medicine 20210607 1
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 neurodevelopmental disorder associated with mutations in DHX30 and characterize loca ...[more]
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