Recurrent bi-allelic splicing variant c.454+3A>G in TRAPPC4 is associated with progressive encephalopathy and muscle involvement

Brain. 2020 Apr 1;143(4):e29. doi: 10.1093/brain/awaa046.
No abstract available

Publication types

  • Letter
  • Research Support, Non-U.S. Gov't
  • Comment

MeSH terms

  • Alleles
  • Brain Diseases*
  • Exons
  • Humans
  • Intellectual Disability*