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Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption | medRxiv

Mutations in the U4 snRNA gene RNU4-2 cause one of the most prevalent monogenic neurodevelopmental disorders | NIH

Re-analysis of whole genome sequencing ends a diagnostic odyssey: Case report of an RNU4-2 related neurodevelopmental disorder | WILEY Online Library

ReNU syndrome – a newly discovered prevalent neurodevelopmental disorder | ScienceDirect

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Saturation genome editing of RNU4-2 reveals distinct dominant and recessive neurodevelopmental disorders | medRxiv

Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption | Nature Genetics (Nat Genet)

Re-analysis of whole genome sequencing ends a diagnostic odyssey: Case report of an RNU4-2 related neurodevelopmental disorder | Wiley Online Library

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Saturation genome editing of RNU4-2 reveals distinct dominant and recessive neurodevelopmental disorders

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Schot R, Ferraro F, Geeven G, Diderich KEM, Barakat TS. Re-analysis of whole genome sequencing ends a diagnostic odyssey: Case report of an RNU4-2 related neurodevelopmental disorder. Clinical Genetics. 2024; 106(4): 512-517. doi:10.1111/cge.14574