Article
Mutations in genes encoding regulators of mRNA decapping and translation initiation: links to intellectual disability.
Biochemical Society transactions - 30 Jun 2020
Weil Dominique, Piton Amélie, Lessel Davor, Standart Nancy
Abstract excerpt
Intellectual disability (ID) affects at least 1% of the population, and typically presents in the first few years of life. ID is characterized by impairments in cognition and adaptive behavior and is often accompanied by further delays in language and motor skills, as seen in many neurodevelopmental disorders (NDD). Recent widespread high-throughput approaches that utilize whole-exome sequencing or whole-genome...
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