Related Experiment Video
Updated: Jun 11, 2025

10:47
Rapid Detection of Neurodevelopmental Phenotypes in Human Neural Precursor Cells NPCs
Published on: March 2, 2018
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ReNU syndrome - a newly discovered prevalent neurodevelopmental disorder
Vanessa F Burns1, Elizabeth J Radford2
1Wellcome Sanger Institute, Hinxton, CB10 1SA, UK.
Trends in Genetics : TIG
|October 2, 2024
Abstract
None:
Two recent papers have identified genetic variants in the noncoding gene RNU4-2 to cause a frequent neurodevelopmental disorder. This work will have a substantial impact on the rare disease community, leading to thousands of diagnoses worldwide. These studies also highlight the untapped diagnostic potential of noncoding regions.
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