Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP4190.RAerBNpkvHS_HG0Ka_s9TT_X3wqR4FsU3s5fi3fbbAelU130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP4190.RAerBNpkvHS_HG0Ka_s9TT_X3wqR4FsU3s5fi3fbbAelU130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP4190.RAerBNpkvHS_HG0Ka_s9TT_X3wqR4FsU3s5fi3fbbAelU130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP4190.RAerBNpkvHS_HG0Ka_s9TT_X3wqR4FsU3s5fi3fbbAelU130_provenance.
- NP4190.RAerBNpkvHS_HG0Ka_s9TT_X3wqR4FsU3s5fi3fbbAelU130_assertion wasGeneratedBy ECO_0000218 NP4190.RAerBNpkvHS_HG0Ka_s9TT_X3wqR4FsU3s5fi3fbbAelU130_provenance.
- NP4190.RAerBNpkvHS_HG0Ka_s9TT_X3wqR4FsU3s5fi3fbbAelU130_assertion wasDerivedFrom uniprot-20130724 NP4190.RAerBNpkvHS_HG0Ka_s9TT_X3wqR4FsU3s5fi3fbbAelU130_provenance.
- NP4190.RAerBNpkvHS_HG0Ka_s9TT_X3wqR4FsU3s5fi3fbbAelU130_assertion SIO_000772 10679944 NP4190.RAerBNpkvHS_HG0Ka_s9TT_X3wqR4FsU3s5fi3fbbAelU130_provenance.
- NP4190.RAerBNpkvHS_HG0Ka_s9TT_X3wqR4FsU3s5fi3fbbAelU130_assertion evidence source_evidence_curated NP4190.RAerBNpkvHS_HG0Ka_s9TT_X3wqR4FsU3s5fi3fbbAelU130_provenance.
- NP4190.RAerBNpkvHS_HG0Ka_s9TT_X3wqR4FsU3s5fi3fbbAelU130_assertion description "[Characterization of six novel mutations in the methylenetetrahydrofolate reductase (MTHFR) gene in patients with homocystinuria.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4190.RAerBNpkvHS_HG0Ka_s9TT_X3wqR4FsU3s5fi3fbbAelU130_provenance.
- uniprot-20130724 importedOn "2013-07-24" NP4190.RAerBNpkvHS_HG0Ka_s9TT_X3wqR4FsU3s5fi3fbbAelU130_provenance.