Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP962324.RA4SMgPbO3k8KpQrSH81bRH8KYgeYdSqWLcXUpQaeowxY130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP962324.RA4SMgPbO3k8KpQrSH81bRH8KYgeYdSqWLcXUpQaeowxY130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP962324.RA4SMgPbO3k8KpQrSH81bRH8KYgeYdSqWLcXUpQaeowxY130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP962324.RA4SMgPbO3k8KpQrSH81bRH8KYgeYdSqWLcXUpQaeowxY130_provenance.
- befree-2016 importedOn "2016-02-19" NP962324.RA4SMgPbO3k8KpQrSH81bRH8KYgeYdSqWLcXUpQaeowxY130_provenance.
- NP962324.RA4SMgPbO3k8KpQrSH81bRH8KYgeYdSqWLcXUpQaeowxY130_assertion wasGeneratedBy ECO_0000203 NP962324.RA4SMgPbO3k8KpQrSH81bRH8KYgeYdSqWLcXUpQaeowxY130_provenance.
- NP962324.RA4SMgPbO3k8KpQrSH81bRH8KYgeYdSqWLcXUpQaeowxY130_assertion wasDerivedFrom befree-2016 NP962324.RA4SMgPbO3k8KpQrSH81bRH8KYgeYdSqWLcXUpQaeowxY130_provenance.
- NP962324.RA4SMgPbO3k8KpQrSH81bRH8KYgeYdSqWLcXUpQaeowxY130_assertion SIO_000772 22351933 NP962324.RA4SMgPbO3k8KpQrSH81bRH8KYgeYdSqWLcXUpQaeowxY130_provenance.
- NP962324.RA4SMgPbO3k8KpQrSH81bRH8KYgeYdSqWLcXUpQaeowxY130_assertion evidence source_evidence_literature NP962324.RA4SMgPbO3k8KpQrSH81bRH8KYgeYdSqWLcXUpQaeowxY130_provenance.
- NP962324.RA4SMgPbO3k8KpQrSH81bRH8KYgeYdSqWLcXUpQaeowxY130_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." NP962324.RA4SMgPbO3k8KpQrSH81bRH8KYgeYdSqWLcXUpQaeowxY130_provenance.