Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP822829.RAuKEyVVr5QYXk0ff9asIhDRCEEvTz6uQ50WLGfWhCZW4#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 22351933 provenance.
- assertion evidence source_evidence_literature provenance.
- assertion description "[A homozygous premature stop codon in exon 6 of PIK3R1 was identified in a young woman with colitis and absent B cells.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.