Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP413871.RAreORhFxFYX1RHxxmXekaqN30zmziZGqjoMw0NatLeo0130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP413871.RAreORhFxFYX1RHxxmXekaqN30zmziZGqjoMw0NatLeo0130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP413871.RAreORhFxFYX1RHxxmXekaqN30zmziZGqjoMw0NatLeo0130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP413871.RAreORhFxFYX1RHxxmXekaqN30zmziZGqjoMw0NatLeo0130_provenance.
- NP413871.RAreORhFxFYX1RHxxmXekaqN30zmziZGqjoMw0NatLeo0130_assertion description "[A woman, whose skin symptoms developed unusually late, at the age 50, had a new T deletion (1320delT) in exon 11 resulting in a PTC at codon 448.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP413871.RAreORhFxFYX1RHxxmXekaqN30zmziZGqjoMw0NatLeo0130_provenance.
- NP413871.RAreORhFxFYX1RHxxmXekaqN30zmziZGqjoMw0NatLeo0130_assertion evidence source_evidence_literature NP413871.RAreORhFxFYX1RHxxmXekaqN30zmziZGqjoMw0NatLeo0130_provenance.
- NP413871.RAreORhFxFYX1RHxxmXekaqN30zmziZGqjoMw0NatLeo0130_assertion SIO_000772 15186327 NP413871.RAreORhFxFYX1RHxxmXekaqN30zmziZGqjoMw0NatLeo0130_provenance.
- NP413871.RAreORhFxFYX1RHxxmXekaqN30zmziZGqjoMw0NatLeo0130_assertion wasDerivedFrom befree-20140225 NP413871.RAreORhFxFYX1RHxxmXekaqN30zmziZGqjoMw0NatLeo0130_provenance.
- NP413871.RAreORhFxFYX1RHxxmXekaqN30zmziZGqjoMw0NatLeo0130_assertion wasGeneratedBy ECO_0000203 NP413871.RAreORhFxFYX1RHxxmXekaqN30zmziZGqjoMw0NatLeo0130_provenance.
- befree-20140225 importedOn "2014-02-25" NP413871.RAreORhFxFYX1RHxxmXekaqN30zmziZGqjoMw0NatLeo0130_provenance.