3/3 I am thrilled to be part of a study establishing the clinical phenotypes of NDD associated with recessive variants in RNU4-2. Thank you to
@rociorius.bsky.social,
@alexblakes.bsky.social,
@cassimons.bsky.social and
@nickywhiffin.bsky.social for leading this work! More details:
lnkd.in/eTJ5Rapt
New recessive neurodevelopmental disorder caused by RNU4-2 variants | Nicola Whiffin posted on the topic | LinkedIn
I am excited to share our preprint describing a new **recessive** neurodevelopmental disorder caused by variants in the non-coding snRNA RNU4-2 🎉
https://lnkd.in/dHNDCsDe
Led by two super ⭐ s Roci...