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Article

ReNU syndrome - a newly discovered prevalent neurodevelopmental disorder.

Trends in genetics : TIG - 1 Nov 2024

Burns Vanessa F, Radford Elizabeth J

Abstract excerpt

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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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 39358183
DOI: 10.1016/j.tig.2024.09.005

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