Login / Signup

Point mutations in IMPDH2 which cause early-onset neurodevelopmental disorders disrupt enzyme regulation and filament structure.

Audrey G O'NeillJustin M KollmanMichael ZechOrly ElpelegTamar HarelSimon EdvardsonHagar Mor ShakedAlyssa L RippertTomoki NomakuchiKosuke IzumiJustin M Kollman
Published in: bioRxiv : the preprint server for biology (2023)
mutation and lays a foundation for future therapeutic development.
Keyphrases
  • early onset
  • late onset
  • current status
  • congenital heart disease