Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1160343.RAv7ZesEnVVZmL0u4DMPVEi7QxG81JHHOap3ceneNjgLg#assertion> ?p ?o ?g. }
Showing items 1 to 5 of
5
with 100 items per page.
- assertion wasGeneratedBy ECO_0000203 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion SIO_000772 14561704 provenance.
- assertion evidence source_evidence_literature provenance.
- assertion description "[We identified a novel homozygous nonconservative missense mutation (I26T) in the critical Engrailed homology repressor domain (eh1) of HESX1, the first, to our knowledge, to be described in humans, in a girl with evolving combined pituitary hormone deficiency born to consanguineous parents.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.