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by @jimpick.com
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Super excited that our two companion papers on saturation genome editing (SGE) of RNU4-2 and discovery of a novel recessive neurodevelopmental disorder (NDD) were published yesterday 🥳 SGE experiment: www.nature.com/articles/s41... Recessive NDD characterisation: www.nature.com/articles/s41... 🧵
Saturation 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.
www.nature.com
Saturation editing of RNU4-2 reveals distinct dominant and recessive disorders - Nature
2mo
Nicky Whiffin