Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP12196.RAuma1eIKislyPTvCl5sL0Ids9MZ8qAghACRBZHQg85X8130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP12196.RAuma1eIKislyPTvCl5sL0Ids9MZ8qAghACRBZHQg85X8130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP12196.RAuma1eIKislyPTvCl5sL0Ids9MZ8qAghACRBZHQg85X8130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP12196.RAuma1eIKislyPTvCl5sL0Ids9MZ8qAghACRBZHQg85X8130_provenance.
- NP12196.RAuma1eIKislyPTvCl5sL0Ids9MZ8qAghACRBZHQg85X8130_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." NP12196.RAuma1eIKislyPTvCl5sL0Ids9MZ8qAghACRBZHQg85X8130_provenance.
- NP12196.RAuma1eIKislyPTvCl5sL0Ids9MZ8qAghACRBZHQg85X8130_assertion evidence source_evidence_curated NP12196.RAuma1eIKislyPTvCl5sL0Ids9MZ8qAghACRBZHQg85X8130_provenance.
- NP12196.RAuma1eIKislyPTvCl5sL0Ids9MZ8qAghACRBZHQg85X8130_assertion SIO_000772 12189163 NP12196.RAuma1eIKislyPTvCl5sL0Ids9MZ8qAghACRBZHQg85X8130_provenance.
- NP12196.RAuma1eIKislyPTvCl5sL0Ids9MZ8qAghACRBZHQg85X8130_assertion wasDerivedFrom ctd_human-2016 NP12196.RAuma1eIKislyPTvCl5sL0Ids9MZ8qAghACRBZHQg85X8130_provenance.
- NP12196.RAuma1eIKislyPTvCl5sL0Ids9MZ8qAghACRBZHQg85X8130_assertion wasGeneratedBy ECO_0000218 NP12196.RAuma1eIKislyPTvCl5sL0Ids9MZ8qAghACRBZHQg85X8130_provenance.
- ctd_human-2016 importedOn "2016-01-25" NP12196.RAuma1eIKislyPTvCl5sL0Ids9MZ8qAghACRBZHQg85X8130_provenance.