Enriched phenotypes in rare variant carriers suggest pathogenic mechanisms in rare disease patients

Check out the most recent UDN publication! ⭐️Key takeaway: Rare variants in #MPO, #P2RX7, #SQSTM1, #COL27A1, #PIGQ, and #CACNA2D2 link to seizures via multi-system disease pathways. @UDNForg https://t.co/MVmjAwL0SI