Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP4919.RA630OhtfCJyi_4h_GxdV5Pv_sXFSnj4fe9mYI3q1K_ds130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP4919.RA630OhtfCJyi_4h_GxdV5Pv_sXFSnj4fe9mYI3q1K_ds130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP4919.RA630OhtfCJyi_4h_GxdV5Pv_sXFSnj4fe9mYI3q1K_ds130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP4919.RA630OhtfCJyi_4h_GxdV5Pv_sXFSnj4fe9mYI3q1K_ds130_provenance.
- NP4919.RA630OhtfCJyi_4h_GxdV5Pv_sXFSnj4fe9mYI3q1K_ds130_assertion description "[Isolation of cDNA encoding the human liver phosphorylase kinase alpha subunit (PHKA2) and identification of a missense mutation of the PHKA2 gene in a family with liver phosphorylase kinase deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4919.RA630OhtfCJyi_4h_GxdV5Pv_sXFSnj4fe9mYI3q1K_ds130_provenance.
- NP4919.RA630OhtfCJyi_4h_GxdV5Pv_sXFSnj4fe9mYI3q1K_ds130_assertion evidence source_evidence_curated NP4919.RA630OhtfCJyi_4h_GxdV5Pv_sXFSnj4fe9mYI3q1K_ds130_provenance.
- NP4919.RA630OhtfCJyi_4h_GxdV5Pv_sXFSnj4fe9mYI3q1K_ds130_assertion SIO_000772 7549948 NP4919.RA630OhtfCJyi_4h_GxdV5Pv_sXFSnj4fe9mYI3q1K_ds130_provenance.
- NP4919.RA630OhtfCJyi_4h_GxdV5Pv_sXFSnj4fe9mYI3q1K_ds130_assertion wasDerivedFrom uniprot-20130724 NP4919.RA630OhtfCJyi_4h_GxdV5Pv_sXFSnj4fe9mYI3q1K_ds130_provenance.
- NP4919.RA630OhtfCJyi_4h_GxdV5Pv_sXFSnj4fe9mYI3q1K_ds130_assertion wasGeneratedBy ECO_0000218 NP4919.RA630OhtfCJyi_4h_GxdV5Pv_sXFSnj4fe9mYI3q1K_ds130_provenance.
- uniprot-20130724 importedOn "2013-07-24" NP4919.RA630OhtfCJyi_4h_GxdV5Pv_sXFSnj4fe9mYI3q1K_ds130_provenance.