Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP25822.RAf997rAL9RTX6KOQMUDoVO-cJFlbBfEUlRfDdEUs7WJ8130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP25822.RAf997rAL9RTX6KOQMUDoVO-cJFlbBfEUlRfDdEUs7WJ8130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP25822.RAf997rAL9RTX6KOQMUDoVO-cJFlbBfEUlRfDdEUs7WJ8130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP25822.RAf997rAL9RTX6KOQMUDoVO-cJFlbBfEUlRfDdEUs7WJ8130_provenance.
- NP25822.RAf997rAL9RTX6KOQMUDoVO-cJFlbBfEUlRfDdEUs7WJ8130_assertion description "[A 5' splice junction mutation leading to exon deletion in an Ashkenazic Jewish family with phosphofructokinase deficiency (Tarui disease).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP25822.RAf997rAL9RTX6KOQMUDoVO-cJFlbBfEUlRfDdEUs7WJ8130_provenance.
- NP25822.RAf997rAL9RTX6KOQMUDoVO-cJFlbBfEUlRfDdEUs7WJ8130_assertion evidence source_evidence_curated NP25822.RAf997rAL9RTX6KOQMUDoVO-cJFlbBfEUlRfDdEUs7WJ8130_provenance.
- NP25822.RAf997rAL9RTX6KOQMUDoVO-cJFlbBfEUlRfDdEUs7WJ8130_assertion SIO_000772 8444874 NP25822.RAf997rAL9RTX6KOQMUDoVO-cJFlbBfEUlRfDdEUs7WJ8130_provenance.
- NP25822.RAf997rAL9RTX6KOQMUDoVO-cJFlbBfEUlRfDdEUs7WJ8130_assertion wasDerivedFrom ctd_human-20130708 NP25822.RAf997rAL9RTX6KOQMUDoVO-cJFlbBfEUlRfDdEUs7WJ8130_provenance.
- NP25822.RAf997rAL9RTX6KOQMUDoVO-cJFlbBfEUlRfDdEUs7WJ8130_assertion wasGeneratedBy ECO_0000218 NP25822.RAf997rAL9RTX6KOQMUDoVO-cJFlbBfEUlRfDdEUs7WJ8130_provenance.
- ctd_human-20130708 importedOn "2013-07-24" NP25822.RAf997rAL9RTX6KOQMUDoVO-cJFlbBfEUlRfDdEUs7WJ8130_provenance.