PI(3,5)P2 production

Gene variants linked to brain disorder in five people

Sequencing identified changes in both copies of PIKFYVE in five people from three families with a disorder involving too little insulation around nerve fibres.Sequencing identified changes in both copies of PIKFYVE in five people from three families with a disorder involving too little insulation around nerve fibres.

Limit: Only five people from three families supported the genetic link