Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP1256.RAOi6A0Hg43TybFeX8MLji8oZsUII3Vxq1G2w8a5I9QU8130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP1256.RAOi6A0Hg43TybFeX8MLji8oZsUII3Vxq1G2w8a5I9QU8130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP1256.RAOi6A0Hg43TybFeX8MLji8oZsUII3Vxq1G2w8a5I9QU8130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP1256.RAOi6A0Hg43TybFeX8MLji8oZsUII3Vxq1G2w8a5I9QU8130_provenance.
- NP1256.RAOi6A0Hg43TybFeX8MLji8oZsUII3Vxq1G2w8a5I9QU8130_assertion description "[A Japanese boy with adenine phosphoribosyltransferase (APRT) deficiency caused by compound heterozygosity including a novel missense mutation in APRT gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1256.RAOi6A0Hg43TybFeX8MLji8oZsUII3Vxq1G2w8a5I9QU8130_provenance.
- NP1256.RAOi6A0Hg43TybFeX8MLji8oZsUII3Vxq1G2w8a5I9QU8130_assertion evidence source_evidence_curated NP1256.RAOi6A0Hg43TybFeX8MLji8oZsUII3Vxq1G2w8a5I9QU8130_provenance.
- NP1256.RAOi6A0Hg43TybFeX8MLji8oZsUII3Vxq1G2w8a5I9QU8130_assertion SIO_000772 21635362 NP1256.RAOi6A0Hg43TybFeX8MLji8oZsUII3Vxq1G2w8a5I9QU8130_provenance.
- NP1256.RAOi6A0Hg43TybFeX8MLji8oZsUII3Vxq1G2w8a5I9QU8130_assertion wasDerivedFrom uniprot-20150221 NP1256.RAOi6A0Hg43TybFeX8MLji8oZsUII3Vxq1G2w8a5I9QU8130_provenance.
- NP1256.RAOi6A0Hg43TybFeX8MLji8oZsUII3Vxq1G2w8a5I9QU8130_assertion wasGeneratedBy ECO_0000218 NP1256.RAOi6A0Hg43TybFeX8MLji8oZsUII3Vxq1G2w8a5I9QU8130_provenance.
- uniprot-20150221 importedOn "2015-02-21" NP1256.RAOi6A0Hg43TybFeX8MLji8oZsUII3Vxq1G2w8a5I9QU8130_provenance.