Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP2647.RAate3v0MPfq5znK_jVLt_bQ-Vb_C7jBKBo5Y6kdoa5xs130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP2647.RAate3v0MPfq5znK_jVLt_bQ-Vb_C7jBKBo5Y6kdoa5xs130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP2647.RAate3v0MPfq5znK_jVLt_bQ-Vb_C7jBKBo5Y6kdoa5xs130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP2647.RAate3v0MPfq5znK_jVLt_bQ-Vb_C7jBKBo5Y6kdoa5xs130_provenance.
- NP2647.RAate3v0MPfq5znK_jVLt_bQ-Vb_C7jBKBo5Y6kdoa5xs130_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." NP2647.RAate3v0MPfq5znK_jVLt_bQ-Vb_C7jBKBo5Y6kdoa5xs130_provenance.
- NP2647.RAate3v0MPfq5znK_jVLt_bQ-Vb_C7jBKBo5Y6kdoa5xs130_assertion evidence source_evidence_curated NP2647.RAate3v0MPfq5znK_jVLt_bQ-Vb_C7jBKBo5Y6kdoa5xs130_provenance.
- NP2647.RAate3v0MPfq5znK_jVLt_bQ-Vb_C7jBKBo5Y6kdoa5xs130_assertion SIO_000772 7549948 NP2647.RAate3v0MPfq5znK_jVLt_bQ-Vb_C7jBKBo5Y6kdoa5xs130_provenance.
- NP2647.RAate3v0MPfq5znK_jVLt_bQ-Vb_C7jBKBo5Y6kdoa5xs130_assertion wasDerivedFrom uniprot-20150221 NP2647.RAate3v0MPfq5znK_jVLt_bQ-Vb_C7jBKBo5Y6kdoa5xs130_provenance.
- NP2647.RAate3v0MPfq5znK_jVLt_bQ-Vb_C7jBKBo5Y6kdoa5xs130_assertion wasGeneratedBy ECO_0000218 NP2647.RAate3v0MPfq5znK_jVLt_bQ-Vb_C7jBKBo5Y6kdoa5xs130_provenance.
- uniprot-20150221 importedOn "2015-02-21" NP2647.RAate3v0MPfq5znK_jVLt_bQ-Vb_C7jBKBo5Y6kdoa5xs130_provenance.