Saturation editing of <i>RNU4-2</i>...

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2026-04-08 15:31:28 - Μετάφραση -

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Saturation editing of <i>RNU4-2</i> reveals distinct dominant and recessive disorders

Nature, Published online: 08 April 2026; doi:10.1038/s41586-026-10334-9Saturation genome editing of RNU4-2 identifies the functional and clinical impact of variants across the entire gene and delineates variants that cause a new recessive neurodevelopmental disorder distinct from ReNU syndrome.

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