@article{article, title  = {{De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome}},

 publisher = {{Springer Science and Business Media LLC}},

 url = {{https://eprints.whiterose.ac.uk/id/eprint/214723 }},

 year = {{2024}},

 month = {{7}},

 author = {{Chen Y and Dawes R and Kim HC and Ljungdahl A and Stenton SL and Walker S and Lord J and Lemire G and Martin-Geary AC and Ganesh VS and Ma J et al}},

 doi = {{10.1038/s41586-024-07773-7}},

 volume = {{632}},

 journal = {{Nature}},

 pages = {{832-840}},

 note = {{Accessed on 2026/01/25}}}