Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP1266.RAYokNeAaO9b_gl-OtMTvY0xXg2a2GAz0A0ogBPIrQrl8130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP1266.RAYokNeAaO9b_gl-OtMTvY0xXg2a2GAz0A0ogBPIrQrl8130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP1266.RAYokNeAaO9b_gl-OtMTvY0xXg2a2GAz0A0ogBPIrQrl8130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP1266.RAYokNeAaO9b_gl-OtMTvY0xXg2a2GAz0A0ogBPIrQrl8130_provenance.
- NP1266.RAYokNeAaO9b_gl-OtMTvY0xXg2a2GAz0A0ogBPIrQrl8130_assertion description "[Cathepsin C gene: First compound heterozygous patient with Papillon-Lef�vre syndrome and a novel symptomless mutation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1266.RAYokNeAaO9b_gl-OtMTvY0xXg2a2GAz0A0ogBPIrQrl8130_provenance.
- NP1266.RAYokNeAaO9b_gl-OtMTvY0xXg2a2GAz0A0ogBPIrQrl8130_assertion evidence source_evidence_curated NP1266.RAYokNeAaO9b_gl-OtMTvY0xXg2a2GAz0A0ogBPIrQrl8130_provenance.
- NP1266.RAYokNeAaO9b_gl-OtMTvY0xXg2a2GAz0A0ogBPIrQrl8130_assertion SIO_000772 11180601 NP1266.RAYokNeAaO9b_gl-OtMTvY0xXg2a2GAz0A0ogBPIrQrl8130_provenance.
- NP1266.RAYokNeAaO9b_gl-OtMTvY0xXg2a2GAz0A0ogBPIrQrl8130_assertion wasDerivedFrom uniprot-2016 NP1266.RAYokNeAaO9b_gl-OtMTvY0xXg2a2GAz0A0ogBPIrQrl8130_provenance.
- NP1266.RAYokNeAaO9b_gl-OtMTvY0xXg2a2GAz0A0ogBPIrQrl8130_assertion wasGeneratedBy ECO_0000218 NP1266.RAYokNeAaO9b_gl-OtMTvY0xXg2a2GAz0A0ogBPIrQrl8130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP1266.RAYokNeAaO9b_gl-OtMTvY0xXg2a2GAz0A0ogBPIrQrl8130_provenance.