Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP1377.RAiMavEJZD3GFDcwXqIvd88-uA1GBq7AGmVp1zkDi2Rgg130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP1377.RAiMavEJZD3GFDcwXqIvd88-uA1GBq7AGmVp1zkDi2Rgg130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP1377.RAiMavEJZD3GFDcwXqIvd88-uA1GBq7AGmVp1zkDi2Rgg130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP1377.RAiMavEJZD3GFDcwXqIvd88-uA1GBq7AGmVp1zkDi2Rgg130_provenance.
- NP1377.RAiMavEJZD3GFDcwXqIvd88-uA1GBq7AGmVp1zkDi2Rgg130_assertion description "[Mutations in the COL3A1 gene result in the Ehlers-Danlos syndrome type IV and alterations in the size and distribution of the major collagen fibrils of the dermis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1377.RAiMavEJZD3GFDcwXqIvd88-uA1GBq7AGmVp1zkDi2Rgg130_provenance.
- NP1377.RAiMavEJZD3GFDcwXqIvd88-uA1GBq7AGmVp1zkDi2Rgg130_assertion evidence source_evidence_curated NP1377.RAiMavEJZD3GFDcwXqIvd88-uA1GBq7AGmVp1zkDi2Rgg130_provenance.
- NP1377.RAiMavEJZD3GFDcwXqIvd88-uA1GBq7AGmVp1zkDi2Rgg130_assertion SIO_000772 9036918 NP1377.RAiMavEJZD3GFDcwXqIvd88-uA1GBq7AGmVp1zkDi2Rgg130_provenance.
- NP1377.RAiMavEJZD3GFDcwXqIvd88-uA1GBq7AGmVp1zkDi2Rgg130_assertion wasDerivedFrom uniprot-20130724 NP1377.RAiMavEJZD3GFDcwXqIvd88-uA1GBq7AGmVp1zkDi2Rgg130_provenance.
- NP1377.RAiMavEJZD3GFDcwXqIvd88-uA1GBq7AGmVp1zkDi2Rgg130_assertion wasGeneratedBy ECO_0000218 NP1377.RAiMavEJZD3GFDcwXqIvd88-uA1GBq7AGmVp1zkDi2Rgg130_provenance.
- uniprot-20130724 importedOn "2013-07-24" NP1377.RAiMavEJZD3GFDcwXqIvd88-uA1GBq7AGmVp1zkDi2Rgg130_provenance.