Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP27047.RA14Xf6P0vjDNQbTIAE9MkitoNGIU9Oycj62-kTYs_eiA130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP27047.RA14Xf6P0vjDNQbTIAE9MkitoNGIU9Oycj62-kTYs_eiA130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP27047.RA14Xf6P0vjDNQbTIAE9MkitoNGIU9Oycj62-kTYs_eiA130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP27047.RA14Xf6P0vjDNQbTIAE9MkitoNGIU9Oycj62-kTYs_eiA130_provenance.
- NP27047.RA14Xf6P0vjDNQbTIAE9MkitoNGIU9Oycj62-kTYs_eiA130_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." NP27047.RA14Xf6P0vjDNQbTIAE9MkitoNGIU9Oycj62-kTYs_eiA130_provenance.
- NP27047.RA14Xf6P0vjDNQbTIAE9MkitoNGIU9Oycj62-kTYs_eiA130_assertion evidence source_evidence_curated NP27047.RA14Xf6P0vjDNQbTIAE9MkitoNGIU9Oycj62-kTYs_eiA130_provenance.
- NP27047.RA14Xf6P0vjDNQbTIAE9MkitoNGIU9Oycj62-kTYs_eiA130_assertion SIO_000772 16740914 NP27047.RA14Xf6P0vjDNQbTIAE9MkitoNGIU9Oycj62-kTYs_eiA130_provenance.
- NP27047.RA14Xf6P0vjDNQbTIAE9MkitoNGIU9Oycj62-kTYs_eiA130_assertion wasDerivedFrom ctd_human-20130708 NP27047.RA14Xf6P0vjDNQbTIAE9MkitoNGIU9Oycj62-kTYs_eiA130_provenance.
- NP27047.RA14Xf6P0vjDNQbTIAE9MkitoNGIU9Oycj62-kTYs_eiA130_assertion wasGeneratedBy ECO_0000218 NP27047.RA14Xf6P0vjDNQbTIAE9MkitoNGIU9Oycj62-kTYs_eiA130_provenance.
- ctd_human-20130708 importedOn "2013-07-24" NP27047.RA14Xf6P0vjDNQbTIAE9MkitoNGIU9Oycj62-kTYs_eiA130_provenance.