Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP28018.RAAQKi-k4vNlYNrIKQz2s93Xqtwe7iAIvZsFa_4Bz6pxQ130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP28018.RAAQKi-k4vNlYNrIKQz2s93Xqtwe7iAIvZsFa_4Bz6pxQ130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP28018.RAAQKi-k4vNlYNrIKQz2s93Xqtwe7iAIvZsFa_4Bz6pxQ130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP28018.RAAQKi-k4vNlYNrIKQz2s93Xqtwe7iAIvZsFa_4Bz6pxQ130_provenance.
- NP28018.RAAQKi-k4vNlYNrIKQz2s93Xqtwe7iAIvZsFa_4Bz6pxQ130_assertion description "[We report the identification of the first mutations in PYGL, the gene encoding the liver isoform of glycogen phosphorylase, in three patients with Hers disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP28018.RAAQKi-k4vNlYNrIKQz2s93Xqtwe7iAIvZsFa_4Bz6pxQ130_provenance.
- NP28018.RAAQKi-k4vNlYNrIKQz2s93Xqtwe7iAIvZsFa_4Bz6pxQ130_assertion evidence source_evidence_curated NP28018.RAAQKi-k4vNlYNrIKQz2s93Xqtwe7iAIvZsFa_4Bz6pxQ130_provenance.
- NP28018.RAAQKi-k4vNlYNrIKQz2s93Xqtwe7iAIvZsFa_4Bz6pxQ130_assertion SIO_000772 9529348 NP28018.RAAQKi-k4vNlYNrIKQz2s93Xqtwe7iAIvZsFa_4Bz6pxQ130_provenance.
- NP28018.RAAQKi-k4vNlYNrIKQz2s93Xqtwe7iAIvZsFa_4Bz6pxQ130_assertion wasDerivedFrom ctd_human-20130708 NP28018.RAAQKi-k4vNlYNrIKQz2s93Xqtwe7iAIvZsFa_4Bz6pxQ130_provenance.
- NP28018.RAAQKi-k4vNlYNrIKQz2s93Xqtwe7iAIvZsFa_4Bz6pxQ130_assertion wasGeneratedBy ECO_0000218 NP28018.RAAQKi-k4vNlYNrIKQz2s93Xqtwe7iAIvZsFa_4Bz6pxQ130_provenance.
- ctd_human-20130708 importedOn "2013-07-24" NP28018.RAAQKi-k4vNlYNrIKQz2s93Xqtwe7iAIvZsFa_4Bz6pxQ130_provenance.