Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP2333.RAqkdnICl7IhztQkh5M5sE0RBjH_UtJZ9ROMs1YCbaHB0130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP2333.RAqkdnICl7IhztQkh5M5sE0RBjH_UtJZ9ROMs1YCbaHB0130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP2333.RAqkdnICl7IhztQkh5M5sE0RBjH_UtJZ9ROMs1YCbaHB0130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP2333.RAqkdnICl7IhztQkh5M5sE0RBjH_UtJZ9ROMs1YCbaHB0130_provenance.
- NP2333.RAqkdnICl7IhztQkh5M5sE0RBjH_UtJZ9ROMs1YCbaHB0130_assertion description "[The cystathionine beta-synthase (CBS) mutation c.1224-2A>C in Central Europe: Vitamin B6 nonresponsiveness and a common ancestral haplotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2333.RAqkdnICl7IhztQkh5M5sE0RBjH_UtJZ9ROMs1YCbaHB0130_provenance.
- NP2333.RAqkdnICl7IhztQkh5M5sE0RBjH_UtJZ9ROMs1YCbaHB0130_assertion evidence source_evidence_curated NP2333.RAqkdnICl7IhztQkh5M5sE0RBjH_UtJZ9ROMs1YCbaHB0130_provenance.
- NP2333.RAqkdnICl7IhztQkh5M5sE0RBjH_UtJZ9ROMs1YCbaHB0130_assertion SIO_000772 15365998 NP2333.RAqkdnICl7IhztQkh5M5sE0RBjH_UtJZ9ROMs1YCbaHB0130_provenance.
- NP2333.RAqkdnICl7IhztQkh5M5sE0RBjH_UtJZ9ROMs1YCbaHB0130_assertion wasDerivedFrom uniprot-20150221 NP2333.RAqkdnICl7IhztQkh5M5sE0RBjH_UtJZ9ROMs1YCbaHB0130_provenance.
- NP2333.RAqkdnICl7IhztQkh5M5sE0RBjH_UtJZ9ROMs1YCbaHB0130_assertion wasGeneratedBy ECO_0000218 NP2333.RAqkdnICl7IhztQkh5M5sE0RBjH_UtJZ9ROMs1YCbaHB0130_provenance.
- uniprot-20150221 importedOn "2015-02-21" NP2333.RAqkdnICl7IhztQkh5M5sE0RBjH_UtJZ9ROMs1YCbaHB0130_provenance.