Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP383.RAPzxr8kfjJS0IvJaeUkxjQ3s1cz29UmCePllPZS2YSvE130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP383.RAPzxr8kfjJS0IvJaeUkxjQ3s1cz29UmCePllPZS2YSvE130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP383.RAPzxr8kfjJS0IvJaeUkxjQ3s1cz29UmCePllPZS2YSvE130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP383.RAPzxr8kfjJS0IvJaeUkxjQ3s1cz29UmCePllPZS2YSvE130_provenance.
- NP383.RAPzxr8kfjJS0IvJaeUkxjQ3s1cz29UmCePllPZS2YSvE130_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." NP383.RAPzxr8kfjJS0IvJaeUkxjQ3s1cz29UmCePllPZS2YSvE130_provenance.
- NP383.RAPzxr8kfjJS0IvJaeUkxjQ3s1cz29UmCePllPZS2YSvE130_assertion evidence source_evidence_curated NP383.RAPzxr8kfjJS0IvJaeUkxjQ3s1cz29UmCePllPZS2YSvE130_provenance.
- NP383.RAPzxr8kfjJS0IvJaeUkxjQ3s1cz29UmCePllPZS2YSvE130_assertion SIO_000772 11139257 NP383.RAPzxr8kfjJS0IvJaeUkxjQ3s1cz29UmCePllPZS2YSvE130_provenance.
- NP383.RAPzxr8kfjJS0IvJaeUkxjQ3s1cz29UmCePllPZS2YSvE130_assertion wasDerivedFrom uniprot-20130724 NP383.RAPzxr8kfjJS0IvJaeUkxjQ3s1cz29UmCePllPZS2YSvE130_provenance.
- NP383.RAPzxr8kfjJS0IvJaeUkxjQ3s1cz29UmCePllPZS2YSvE130_assertion wasGeneratedBy ECO_0000218 NP383.RAPzxr8kfjJS0IvJaeUkxjQ3s1cz29UmCePllPZS2YSvE130_provenance.
- uniprot-20130724 importedOn "2013-07-24" NP383.RAPzxr8kfjJS0IvJaeUkxjQ3s1cz29UmCePllPZS2YSvE130_provenance.