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

Online now! Review discussing the basics of noncoding variant-mediated pathogenesis, the methodologies utilized, and how #iPSC -based heart models can be leveraged to dissect the mechanisms of #noncodingvariants ow.ly/wqcH50VlLGC

@bcchresearch.bsky.social @isscr.org