Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes.
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Rius R, et al.
Nat Genet. 2026 Apr 8. doi: 10.1038/s41588-026-02554-6. Online ahead of print.
Nat Genet. 2026.
PMID: 41951959