A study published in PubMed reveals new insights into the genetic prevalence of oculopharyngeal muscular dystrophy linked to PABPN1 pathogenic expansions in the UK Biobank. This research may reshape understanding of the disease's genetic landscape.
pabpn1 pathogenic expansion in the uk biobank reframing genetic prevalence of oculopharyngeal muscular dystrophy
Original title: “PABPN1 pathogenic expansion in the UK Biobank: reframing genetic prevalence of oculopharyngeal muscular dystrophy.”