Characterization and Engineered U1 snRNA Rescue of Splicing Variants in a Turkish Neurodevelopmental Disease Cohort
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DOI: 10.1155/2024/7760556
Abstract: Although they are rare in the population, rare neurodevelopmental disorders (RNDDs) constitute a significant portion of all rare diseases. While advancements in sequencing technologies led to improvements in diagnosing and managing rare neurodevelopmental diseases, accurate… read more here.
Keywords: disease; rescue splicing; engineered snrna; splicing variants ... See more keywords