Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP3194.RAZrf3T5Jk6P6qJNQLS5K2fiIns-b81bhzTs9y7G2SJro130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP3194.RAZrf3T5Jk6P6qJNQLS5K2fiIns-b81bhzTs9y7G2SJro130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP3194.RAZrf3T5Jk6P6qJNQLS5K2fiIns-b81bhzTs9y7G2SJro130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP3194.RAZrf3T5Jk6P6qJNQLS5K2fiIns-b81bhzTs9y7G2SJro130_provenance.
- NP3194.RAZrf3T5Jk6P6qJNQLS5K2fiIns-b81bhzTs9y7G2SJro130_assertion description "[A rare case of complete human erythrocyte AMP deaminase deficiency due to two novel missense mutations in AMPD3.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3194.RAZrf3T5Jk6P6qJNQLS5K2fiIns-b81bhzTs9y7G2SJro130_provenance.
- NP3194.RAZrf3T5Jk6P6qJNQLS5K2fiIns-b81bhzTs9y7G2SJro130_assertion evidence source_evidence_curated NP3194.RAZrf3T5Jk6P6qJNQLS5K2fiIns-b81bhzTs9y7G2SJro130_provenance.
- NP3194.RAZrf3T5Jk6P6qJNQLS5K2fiIns-b81bhzTs9y7G2SJro130_assertion SIO_000772 11139257 NP3194.RAZrf3T5Jk6P6qJNQLS5K2fiIns-b81bhzTs9y7G2SJro130_provenance.
- NP3194.RAZrf3T5Jk6P6qJNQLS5K2fiIns-b81bhzTs9y7G2SJro130_assertion wasDerivedFrom uniprot-20150221 NP3194.RAZrf3T5Jk6P6qJNQLS5K2fiIns-b81bhzTs9y7G2SJro130_provenance.
- NP3194.RAZrf3T5Jk6P6qJNQLS5K2fiIns-b81bhzTs9y7G2SJro130_assertion wasGeneratedBy ECO_0000218 NP3194.RAZrf3T5Jk6P6qJNQLS5K2fiIns-b81bhzTs9y7G2SJro130_provenance.
- uniprot-20150221 importedOn "2015-02-21" NP3194.RAZrf3T5Jk6P6qJNQLS5K2fiIns-b81bhzTs9y7G2SJro130_provenance.