Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP15531.RAhQDYmR2WOG2_y2dVKPIcCbtNin4sA1qY2N-1TSvOUOc130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP15531.RAhQDYmR2WOG2_y2dVKPIcCbtNin4sA1qY2N-1TSvOUOc130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP15531.RAhQDYmR2WOG2_y2dVKPIcCbtNin4sA1qY2N-1TSvOUOc130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP15531.RAhQDYmR2WOG2_y2dVKPIcCbtNin4sA1qY2N-1TSvOUOc130_provenance.
- NP15531.RAhQDYmR2WOG2_y2dVKPIcCbtNin4sA1qY2N-1TSvOUOc130_assertion description "[Homozygosity for a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxa.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP15531.RAhQDYmR2WOG2_y2dVKPIcCbtNin4sA1qY2N-1TSvOUOc130_provenance.
- NP15531.RAhQDYmR2WOG2_y2dVKPIcCbtNin4sA1qY2N-1TSvOUOc130_assertion evidence source_evidence_curated NP15531.RAhQDYmR2WOG2_y2dVKPIcCbtNin4sA1qY2N-1TSvOUOc130_provenance.
- NP15531.RAhQDYmR2WOG2_y2dVKPIcCbtNin4sA1qY2N-1TSvOUOc130_assertion SIO_000772 12189163 NP15531.RAhQDYmR2WOG2_y2dVKPIcCbtNin4sA1qY2N-1TSvOUOc130_provenance.
- NP15531.RAhQDYmR2WOG2_y2dVKPIcCbtNin4sA1qY2N-1TSvOUOc130_assertion wasDerivedFrom ctd_human-20130708 NP15531.RAhQDYmR2WOG2_y2dVKPIcCbtNin4sA1qY2N-1TSvOUOc130_provenance.
- NP15531.RAhQDYmR2WOG2_y2dVKPIcCbtNin4sA1qY2N-1TSvOUOc130_assertion wasGeneratedBy ECO_0000218 NP15531.RAhQDYmR2WOG2_y2dVKPIcCbtNin4sA1qY2N-1TSvOUOc130_provenance.
- ctd_human-20130708 importedOn "2013-07-24" NP15531.RAhQDYmR2WOG2_y2dVKPIcCbtNin4sA1qY2N-1TSvOUOc130_provenance.