Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP4922.RA_8bEFxC0DfBF90CY8PCVsLs7RgAv5RhgXrR3coxMP6U130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP4922.RA_8bEFxC0DfBF90CY8PCVsLs7RgAv5RhgXrR3coxMP6U130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP4922.RA_8bEFxC0DfBF90CY8PCVsLs7RgAv5RhgXrR3coxMP6U130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP4922.RA_8bEFxC0DfBF90CY8PCVsLs7RgAv5RhgXrR3coxMP6U130_provenance.
- NP4922.RA_8bEFxC0DfBF90CY8PCVsLs7RgAv5RhgXrR3coxMP6U130_assertion description "[Mutations in the testis/liver isoform of the phosphorylase kinase gamma subunit (PHKG2) cause autosomal liver glycogenosis in the gsd rat and in humans.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4922.RA_8bEFxC0DfBF90CY8PCVsLs7RgAv5RhgXrR3coxMP6U130_provenance.
- NP4922.RA_8bEFxC0DfBF90CY8PCVsLs7RgAv5RhgXrR3coxMP6U130_assertion evidence source_evidence_curated NP4922.RA_8bEFxC0DfBF90CY8PCVsLs7RgAv5RhgXrR3coxMP6U130_provenance.
- NP4922.RA_8bEFxC0DfBF90CY8PCVsLs7RgAv5RhgXrR3coxMP6U130_assertion SIO_000772 8896567 NP4922.RA_8bEFxC0DfBF90CY8PCVsLs7RgAv5RhgXrR3coxMP6U130_provenance.
- NP4922.RA_8bEFxC0DfBF90CY8PCVsLs7RgAv5RhgXrR3coxMP6U130_assertion wasDerivedFrom uniprot-20130724 NP4922.RA_8bEFxC0DfBF90CY8PCVsLs7RgAv5RhgXrR3coxMP6U130_provenance.
- NP4922.RA_8bEFxC0DfBF90CY8PCVsLs7RgAv5RhgXrR3coxMP6U130_assertion wasGeneratedBy ECO_0000218 NP4922.RA_8bEFxC0DfBF90CY8PCVsLs7RgAv5RhgXrR3coxMP6U130_provenance.
- uniprot-20130724 importedOn "2013-07-24" NP4922.RA_8bEFxC0DfBF90CY8PCVsLs7RgAv5RhgXrR3coxMP6U130_provenance.