Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP8229.RACFdKfnL54PF-UQUxS1rlKnh88nR9NsAiBmAtRftB0RY130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP8229.RACFdKfnL54PF-UQUxS1rlKnh88nR9NsAiBmAtRftB0RY130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP8229.RACFdKfnL54PF-UQUxS1rlKnh88nR9NsAiBmAtRftB0RY130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP8229.RACFdKfnL54PF-UQUxS1rlKnh88nR9NsAiBmAtRftB0RY130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP8229.RACFdKfnL54PF-UQUxS1rlKnh88nR9NsAiBmAtRftB0RY130_provenance.
- NP8229.RACFdKfnL54PF-UQUxS1rlKnh88nR9NsAiBmAtRftB0RY130_assertion wasGeneratedBy ECO_0000218 NP8229.RACFdKfnL54PF-UQUxS1rlKnh88nR9NsAiBmAtRftB0RY130_provenance.
- NP8229.RACFdKfnL54PF-UQUxS1rlKnh88nR9NsAiBmAtRftB0RY130_assertion wasDerivedFrom uniprot-2016 NP8229.RACFdKfnL54PF-UQUxS1rlKnh88nR9NsAiBmAtRftB0RY130_provenance.
- NP8229.RACFdKfnL54PF-UQUxS1rlKnh88nR9NsAiBmAtRftB0RY130_assertion SIO_000772 2909537 NP8229.RACFdKfnL54PF-UQUxS1rlKnh88nR9NsAiBmAtRftB0RY130_provenance.
- NP8229.RACFdKfnL54PF-UQUxS1rlKnh88nR9NsAiBmAtRftB0RY130_assertion evidence source_evidence_curated NP8229.RACFdKfnL54PF-UQUxS1rlKnh88nR9NsAiBmAtRftB0RY130_provenance.
- NP8229.RACFdKfnL54PF-UQUxS1rlKnh88nR9NsAiBmAtRftB0RY130_assertion description "[Human hypoxanthine-guanine phosphoribosyltransferase deficiency. The molecular defect in a patient with gout (HPRTAshville).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP8229.RACFdKfnL54PF-UQUxS1rlKnh88nR9NsAiBmAtRftB0RY130_provenance.