Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP7310.RASp7mF0OeJi_dxemcR-ppm3RZksLd_QyZfwEYJX7K15M130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP7310.RASp7mF0OeJi_dxemcR-ppm3RZksLd_QyZfwEYJX7K15M130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP7310.RASp7mF0OeJi_dxemcR-ppm3RZksLd_QyZfwEYJX7K15M130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP7310.RASp7mF0OeJi_dxemcR-ppm3RZksLd_QyZfwEYJX7K15M130_provenance.
- NP7310.RASp7mF0OeJi_dxemcR-ppm3RZksLd_QyZfwEYJX7K15M130_assertion wasGeneratedBy ECO_0000218 NP7310.RASp7mF0OeJi_dxemcR-ppm3RZksLd_QyZfwEYJX7K15M130_provenance.
- NP7310.RASp7mF0OeJi_dxemcR-ppm3RZksLd_QyZfwEYJX7K15M130_assertion wasDerivedFrom ctd_human-20130708 NP7310.RASp7mF0OeJi_dxemcR-ppm3RZksLd_QyZfwEYJX7K15M130_provenance.
- NP7310.RASp7mF0OeJi_dxemcR-ppm3RZksLd_QyZfwEYJX7K15M130_assertion SIO_000772 12069597 NP7310.RASp7mF0OeJi_dxemcR-ppm3RZksLd_QyZfwEYJX7K15M130_provenance.
- NP7310.RASp7mF0OeJi_dxemcR-ppm3RZksLd_QyZfwEYJX7K15M130_assertion evidence source_evidence_curated NP7310.RASp7mF0OeJi_dxemcR-ppm3RZksLd_QyZfwEYJX7K15M130_provenance.
- NP7310.RASp7mF0OeJi_dxemcR-ppm3RZksLd_QyZfwEYJX7K15M130_assertion description "[Mutations in the MRP gene family member MRP6 cause pseudoxanthoma elasticum (PXE) in humans, a disease affecting elasticity of connective tissues.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP7310.RASp7mF0OeJi_dxemcR-ppm3RZksLd_QyZfwEYJX7K15M130_provenance.
- ctd_human-20130708 importedOn "2013-07-24" NP7310.RASp7mF0OeJi_dxemcR-ppm3RZksLd_QyZfwEYJX7K15M130_provenance.