Ecosyste.ms: Papers
An open API service providing mapping between scientific papers and software projects that are mentioned in them.
All mentions data is based on the CZI Software Mentions dataset.
Papers: 10.1002/humu.23420
https://doi.org/10.1002/humu.23420
A homozygous variant disrupting the <i>PIGH</i> start-codon is associated with developmental delay, epilepsy, and microcephaly
Cited by: 17
Author(s): Alistair T Pagnamenta, Yoshiko Murakami, Consuelo Anzilotti, Hannah Titheradge, Adam Oates, Jenny Morton, Taroh Kinoshita, Usha Kini, Jenny C. Taylor
Published: over 6 years ago