Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP14462.RAB_Jdpu5vceyrkl5lo1A-hhrOIA8_vIxiS9y1DIT7aw4130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP14462.RAB_Jdpu5vceyrkl5lo1A-hhrOIA8_vIxiS9y1DIT7aw4130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP14462.RAB_Jdpu5vceyrkl5lo1A-hhrOIA8_vIxiS9y1DIT7aw4130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP14462.RAB_Jdpu5vceyrkl5lo1A-hhrOIA8_vIxiS9y1DIT7aw4130_provenance.
- NP14462.RAB_Jdpu5vceyrkl5lo1A-hhrOIA8_vIxiS9y1DIT7aw4130_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." NP14462.RAB_Jdpu5vceyrkl5lo1A-hhrOIA8_vIxiS9y1DIT7aw4130_provenance.
- NP14462.RAB_Jdpu5vceyrkl5lo1A-hhrOIA8_vIxiS9y1DIT7aw4130_assertion evidence source_evidence_curated NP14462.RAB_Jdpu5vceyrkl5lo1A-hhrOIA8_vIxiS9y1DIT7aw4130_provenance.
- NP14462.RAB_Jdpu5vceyrkl5lo1A-hhrOIA8_vIxiS9y1DIT7aw4130_assertion SIO_000772 12189163 NP14462.RAB_Jdpu5vceyrkl5lo1A-hhrOIA8_vIxiS9y1DIT7aw4130_provenance.
- NP14462.RAB_Jdpu5vceyrkl5lo1A-hhrOIA8_vIxiS9y1DIT7aw4130_assertion wasDerivedFrom ctd_human-20150221 NP14462.RAB_Jdpu5vceyrkl5lo1A-hhrOIA8_vIxiS9y1DIT7aw4130_provenance.
- NP14462.RAB_Jdpu5vceyrkl5lo1A-hhrOIA8_vIxiS9y1DIT7aw4130_assertion wasGeneratedBy ECO_0000218 NP14462.RAB_Jdpu5vceyrkl5lo1A-hhrOIA8_vIxiS9y1DIT7aw4130_provenance.
- ctd_human-20150221 importedOn "2015-02-21" NP14462.RAB_Jdpu5vceyrkl5lo1A-hhrOIA8_vIxiS9y1DIT7aw4130_provenance.