PTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasia

Overview of attention for article published in Journal of Clinical Investigation, September 2025

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PTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasia #RareDisease #Genetics #morbidgene https://t.co/lmyT82KiDl https://t.co/5WmPYNEtAs

Here are our latest publications from last week: ▶️https://t.co/TG4Jsa2bKB #PTBP1 variants displaying altered nucleocytoplasmic ▶️https://t.co/ywhoHCqymt Disrupting Integrator complex subunit #INTS6 by @platzer_k & @RamiJamra

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