Article

An inappropriate decline in ribosome levels drives a diverse set of neurodevelopmental disorders

2024-01-11

Abstract excerpt

<h4>Summary</h4> Many neurodevelopmental defects are linked to perturbations in genes involved in housekeeping functions, such as those encoding ribosome biogenesis factors. However, how reductions in ribosome biogenesis can result in tissue and developmental specific defects remains a mystery. Here we describe new allelic variants in the ribosome biogenesis factor AIRIM primarily associated with neurodevelopmen...

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Literature Corpus work: 5a0b8f92-d1e6-5517-ab2b-9fb5d06af260
DOI: 10.1101/2024.01.09.574708

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