Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP3092.RAtvKjZTQAXGdldOCrFY4NmZ45m6qRJ_uR9C7_M1mYg7Q130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP3092.RAtvKjZTQAXGdldOCrFY4NmZ45m6qRJ_uR9C7_M1mYg7Q130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP3092.RAtvKjZTQAXGdldOCrFY4NmZ45m6qRJ_uR9C7_M1mYg7Q130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP3092.RAtvKjZTQAXGdldOCrFY4NmZ45m6qRJ_uR9C7_M1mYg7Q130_provenance.
- NP3092.RAtvKjZTQAXGdldOCrFY4NmZ45m6qRJ_uR9C7_M1mYg7Q130_assertion description "[Hemolytic anemia and severe rhabdomyolysis caused by compound heterozygous mutations of the gene for erythrocyte/muscle isozyme of aldolase, ALDOA(Arg303X/Cys338Tyr).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3092.RAtvKjZTQAXGdldOCrFY4NmZ45m6qRJ_uR9C7_M1mYg7Q130_provenance.
- NP3092.RAtvKjZTQAXGdldOCrFY4NmZ45m6qRJ_uR9C7_M1mYg7Q130_assertion evidence source_evidence_curated NP3092.RAtvKjZTQAXGdldOCrFY4NmZ45m6qRJ_uR9C7_M1mYg7Q130_provenance.
- NP3092.RAtvKjZTQAXGdldOCrFY4NmZ45m6qRJ_uR9C7_M1mYg7Q130_assertion SIO_000772 14615364 NP3092.RAtvKjZTQAXGdldOCrFY4NmZ45m6qRJ_uR9C7_M1mYg7Q130_provenance.
- NP3092.RAtvKjZTQAXGdldOCrFY4NmZ45m6qRJ_uR9C7_M1mYg7Q130_assertion wasDerivedFrom uniprot-2016 NP3092.RAtvKjZTQAXGdldOCrFY4NmZ45m6qRJ_uR9C7_M1mYg7Q130_provenance.
- NP3092.RAtvKjZTQAXGdldOCrFY4NmZ45m6qRJ_uR9C7_M1mYg7Q130_assertion wasGeneratedBy ECO_0000218 NP3092.RAtvKjZTQAXGdldOCrFY4NmZ45m6qRJ_uR9C7_M1mYg7Q130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP3092.RAtvKjZTQAXGdldOCrFY4NmZ45m6qRJ_uR9C7_M1mYg7Q130_provenance.