Skip to Main Content

Paper Details

A homozygous variant disrupting the PIGH start-codon is associated with developmental delay, epilepsy, and microcephaly.
Hum Mutat
16
2018
Author NameAffiliation
Alistair T PagnamentaNational Institute for Health Research Oxford Biomedical Research Centre, University of Oxford
Jenny C TaylorNational Institute for Health Research Oxford Biomedical Research Centre, University of Oxford
  • 1 - 2

Datasets

Release 1.2