Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP6577.RAaZ1weuXCAvwC0aBz7oSWOC36aSXjbphwW01g8SEv7PU130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP6577.RAaZ1weuXCAvwC0aBz7oSWOC36aSXjbphwW01g8SEv7PU130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP6577.RAaZ1weuXCAvwC0aBz7oSWOC36aSXjbphwW01g8SEv7PU130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP6577.RAaZ1weuXCAvwC0aBz7oSWOC36aSXjbphwW01g8SEv7PU130_provenance.
- NP6577.RAaZ1weuXCAvwC0aBz7oSWOC36aSXjbphwW01g8SEv7PU130_assertion description "[Carpenter syndrome: extended RAB23 mutation spectrum and analysis of nonsense-mediated mRNA decay.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6577.RAaZ1weuXCAvwC0aBz7oSWOC36aSXjbphwW01g8SEv7PU130_provenance.
- NP6577.RAaZ1weuXCAvwC0aBz7oSWOC36aSXjbphwW01g8SEv7PU130_assertion evidence source_evidence_curated NP6577.RAaZ1weuXCAvwC0aBz7oSWOC36aSXjbphwW01g8SEv7PU130_provenance.
- NP6577.RAaZ1weuXCAvwC0aBz7oSWOC36aSXjbphwW01g8SEv7PU130_assertion SIO_000772 21412941 NP6577.RAaZ1weuXCAvwC0aBz7oSWOC36aSXjbphwW01g8SEv7PU130_provenance.
- NP6577.RAaZ1weuXCAvwC0aBz7oSWOC36aSXjbphwW01g8SEv7PU130_assertion wasDerivedFrom uniprot-2016 NP6577.RAaZ1weuXCAvwC0aBz7oSWOC36aSXjbphwW01g8SEv7PU130_provenance.
- NP6577.RAaZ1weuXCAvwC0aBz7oSWOC36aSXjbphwW01g8SEv7PU130_assertion wasGeneratedBy ECO_0000218 NP6577.RAaZ1weuXCAvwC0aBz7oSWOC36aSXjbphwW01g8SEv7PU130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP6577.RAaZ1weuXCAvwC0aBz7oSWOC36aSXjbphwW01g8SEv7PU130_provenance.