Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP872514.RABChSTZ2MEuwV6RPWMpZAYp6k6Hrgtnt9ZlLk9tJ3Jhs130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP872514.RABChSTZ2MEuwV6RPWMpZAYp6k6Hrgtnt9ZlLk9tJ3Jhs130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP872514.RABChSTZ2MEuwV6RPWMpZAYp6k6Hrgtnt9ZlLk9tJ3Jhs130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP872514.RABChSTZ2MEuwV6RPWMpZAYp6k6Hrgtnt9ZlLk9tJ3Jhs130_provenance.
- befree-20150227 importedOn "2015-02-27" NP872514.RABChSTZ2MEuwV6RPWMpZAYp6k6Hrgtnt9ZlLk9tJ3Jhs130_provenance.
- NP872514.RABChSTZ2MEuwV6RPWMpZAYp6k6Hrgtnt9ZlLk9tJ3Jhs130_assertion wasGeneratedBy ECO_0000203 NP872514.RABChSTZ2MEuwV6RPWMpZAYp6k6Hrgtnt9ZlLk9tJ3Jhs130_provenance.
- NP872514.RABChSTZ2MEuwV6RPWMpZAYp6k6Hrgtnt9ZlLk9tJ3Jhs130_assertion wasDerivedFrom befree-20150227 NP872514.RABChSTZ2MEuwV6RPWMpZAYp6k6Hrgtnt9ZlLk9tJ3Jhs130_provenance.
- NP872514.RABChSTZ2MEuwV6RPWMpZAYp6k6Hrgtnt9ZlLk9tJ3Jhs130_assertion SIO_000772 20549361 NP872514.RABChSTZ2MEuwV6RPWMpZAYp6k6Hrgtnt9ZlLk9tJ3Jhs130_provenance.
- NP872514.RABChSTZ2MEuwV6RPWMpZAYp6k6Hrgtnt9ZlLk9tJ3Jhs130_assertion evidence source_evidence_literature NP872514.RABChSTZ2MEuwV6RPWMpZAYp6k6Hrgtnt9ZlLk9tJ3Jhs130_provenance.
- NP872514.RABChSTZ2MEuwV6RPWMpZAYp6k6Hrgtnt9ZlLk9tJ3Jhs130_assertion description "[Malonyl coenzyme A (CoA) decarboxylase (EC 4.1.1.9, MCD) deficiency, or malonic aciduria, is a rare inborn error of metabolism characterised by a variable phenotype of developmental delay, seizures, cardiomyopathy and acidosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP872514.RABChSTZ2MEuwV6RPWMpZAYp6k6Hrgtnt9ZlLk9tJ3Jhs130_provenance.