Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP872514.RABChSTZ2MEuwV6RPWMpZAYp6k6Hrgtnt9ZlLk9tJ3Jhs130_assertion> ?p ?o ?g. }
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- NP872514.RABChSTZ2MEuwV6RPWMpZAYp6k6Hrgtnt9ZlLk9tJ3Jhs130_assertion type Assertion NP872514.RABChSTZ2MEuwV6RPWMpZAYp6k6Hrgtnt9ZlLk9tJ3Jhs130_head.
- 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.