Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP17560.RATCjo18PYHDk5vR1vQ7792QCgV-sBss8iyFrOCQfCH6Q130_provenance>. }
Showing items 1 to 9 of
9
with 100 items per page.
- source_evidence_curated type ECO_0000205 NP17560.RATCjo18PYHDk5vR1vQ7792QCgV-sBss8iyFrOCQfCH6Q130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP17560.RATCjo18PYHDk5vR1vQ7792QCgV-sBss8iyFrOCQfCH6Q130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP17560.RATCjo18PYHDk5vR1vQ7792QCgV-sBss8iyFrOCQfCH6Q130_provenance.
- NP17560.RATCjo18PYHDk5vR1vQ7792QCgV-sBss8iyFrOCQfCH6Q130_assertion description "[Golabi-Ito-Hall syndrome results from a missense mutation in the WW domain of the PQBP1 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP17560.RATCjo18PYHDk5vR1vQ7792QCgV-sBss8iyFrOCQfCH6Q130_provenance.
- NP17560.RATCjo18PYHDk5vR1vQ7792QCgV-sBss8iyFrOCQfCH6Q130_assertion evidence source_evidence_curated NP17560.RATCjo18PYHDk5vR1vQ7792QCgV-sBss8iyFrOCQfCH6Q130_provenance.
- NP17560.RATCjo18PYHDk5vR1vQ7792QCgV-sBss8iyFrOCQfCH6Q130_assertion SIO_000772 16740914 NP17560.RATCjo18PYHDk5vR1vQ7792QCgV-sBss8iyFrOCQfCH6Q130_provenance.
- NP17560.RATCjo18PYHDk5vR1vQ7792QCgV-sBss8iyFrOCQfCH6Q130_assertion wasDerivedFrom ctd_human-2016 NP17560.RATCjo18PYHDk5vR1vQ7792QCgV-sBss8iyFrOCQfCH6Q130_provenance.
- NP17560.RATCjo18PYHDk5vR1vQ7792QCgV-sBss8iyFrOCQfCH6Q130_assertion wasGeneratedBy ECO_0000218 NP17560.RATCjo18PYHDk5vR1vQ7792QCgV-sBss8iyFrOCQfCH6Q130_provenance.
- ctd_human-2016 importedOn "2016-01-25" NP17560.RATCjo18PYHDk5vR1vQ7792QCgV-sBss8iyFrOCQfCH6Q130_provenance.