A deep intronic variant in PHKG2 caused #pseudoexon inclusion and GSD IX γ2 in two siblings, highlighting a pathway to detect and reverse non-coding splicing defects using RNA-seq and #antisensetherapy. bit.ly/4pMlNdS #GIMO #GlycogenStorageDisease #NonCodingVariants
December 3, 2025 at 9:42 PM
A deep intronic variant in PHKG2 caused #pseudoexon inclusion and GSD IX γ2 in two siblings, highlighting a pathway to detect and reverse non-coding splicing defects using RNA-seq and #antisensetherapy. bit.ly/4pMlNdS #GIMO #GlycogenStorageDisease #NonCodingVariants