Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP25822.RAf997rAL9RTX6KOQMUDoVO-cJFlbBfEUlRfDdEUs7WJ8130_assertion> ?p ?o ?g. }
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- NP25822.RAf997rAL9RTX6KOQMUDoVO-cJFlbBfEUlRfDdEUs7WJ8130_assertion type Assertion NP25822.RAf997rAL9RTX6KOQMUDoVO-cJFlbBfEUlRfDdEUs7WJ8130_head.
- 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.