Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP1032.RAIdZdGqvLSS63WlJUY8oEYuC28y8qKuE5YndIgvhGcUs130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP1032.RAIdZdGqvLSS63WlJUY8oEYuC28y8qKuE5YndIgvhGcUs130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP1032.RAIdZdGqvLSS63WlJUY8oEYuC28y8qKuE5YndIgvhGcUs130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP1032.RAIdZdGqvLSS63WlJUY8oEYuC28y8qKuE5YndIgvhGcUs130_provenance.
- NP1032.RAIdZdGqvLSS63WlJUY8oEYuC28y8qKuE5YndIgvhGcUs130_assertion description "[Hereditary fructose intolerance (HFI) is a recessively inherited disorder of carbohydrate metabolism caused by impaired functioning of human liver aldolase (B isoform; ALDOB).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1032.RAIdZdGqvLSS63WlJUY8oEYuC28y8qKuE5YndIgvhGcUs130_provenance.
- NP1032.RAIdZdGqvLSS63WlJUY8oEYuC28y8qKuE5YndIgvhGcUs130_assertion evidence source_evidence_curated NP1032.RAIdZdGqvLSS63WlJUY8oEYuC28y8qKuE5YndIgvhGcUs130_provenance.
- NP1032.RAIdZdGqvLSS63WlJUY8oEYuC28y8qKuE5YndIgvhGcUs130_assertion SIO_000772 15532022 NP1032.RAIdZdGqvLSS63WlJUY8oEYuC28y8qKuE5YndIgvhGcUs130_provenance.
- NP1032.RAIdZdGqvLSS63WlJUY8oEYuC28y8qKuE5YndIgvhGcUs130_assertion wasDerivedFrom uniprot-20150221 NP1032.RAIdZdGqvLSS63WlJUY8oEYuC28y8qKuE5YndIgvhGcUs130_provenance.
- NP1032.RAIdZdGqvLSS63WlJUY8oEYuC28y8qKuE5YndIgvhGcUs130_assertion wasGeneratedBy ECO_0000218 NP1032.RAIdZdGqvLSS63WlJUY8oEYuC28y8qKuE5YndIgvhGcUs130_provenance.
- uniprot-20150221 importedOn "2015-02-21" NP1032.RAIdZdGqvLSS63WlJUY8oEYuC28y8qKuE5YndIgvhGcUs130_provenance.