Role of novel de novo gain-of-function TRPM3 mutations in a spectrum of neurodevelopmental disorders

Cell Calcium. 2023 Mar:110:102704. doi: 10.1016/j.ceca.2023.102704. Epub 2023 Feb 13.
No abstract available

Keywords: Gain-of-function mutation; Neurodevelopmental disorders; TRPM3.

MeSH terms

  • Gain of Function Mutation
  • Humans
  • Mutation
  • Neurodevelopmental Disorders* / genetics
  • TRPM Cation Channels* / genetics

Substances

  • TRPM3 protein, human
  • TRPM Cation Channels