Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP311726.RALU9VzYm4yl7EuPWTbXq8ARj7mluzTQUj1ClKRHsKOV4130_assertion> ?p ?o ?g. }
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- NP311726.RALU9VzYm4yl7EuPWTbXq8ARj7mluzTQUj1ClKRHsKOV4130_assertion type Assertion NP311726.RALU9VzYm4yl7EuPWTbXq8ARj7mluzTQUj1ClKRHsKOV4130_head.
- NP311726.RALU9VzYm4yl7EuPWTbXq8ARj7mluzTQUj1ClKRHsKOV4130_assertion description "[Isolated 3-methylcrotonyl-CoA carboxylase (MCC) deficiency is an autosomal recessive disorder that appears to be the most frequent organic aciduria detected in tandem mass spectrometry (TMS)-based neonatal screening programs.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP311726.RALU9VzYm4yl7EuPWTbXq8ARj7mluzTQUj1ClKRHsKOV4130_provenance.
- NP311726.RALU9VzYm4yl7EuPWTbXq8ARj7mluzTQUj1ClKRHsKOV4130_assertion evidence source_evidence_literature NP311726.RALU9VzYm4yl7EuPWTbXq8ARj7mluzTQUj1ClKRHsKOV4130_provenance.
- NP311726.RALU9VzYm4yl7EuPWTbXq8ARj7mluzTQUj1ClKRHsKOV4130_assertion SIO_000772 16010683 NP311726.RALU9VzYm4yl7EuPWTbXq8ARj7mluzTQUj1ClKRHsKOV4130_provenance.
- NP311726.RALU9VzYm4yl7EuPWTbXq8ARj7mluzTQUj1ClKRHsKOV4130_assertion wasDerivedFrom befree-20140225 NP311726.RALU9VzYm4yl7EuPWTbXq8ARj7mluzTQUj1ClKRHsKOV4130_provenance.
- NP311726.RALU9VzYm4yl7EuPWTbXq8ARj7mluzTQUj1ClKRHsKOV4130_assertion wasGeneratedBy ECO_0000203 NP311726.RALU9VzYm4yl7EuPWTbXq8ARj7mluzTQUj1ClKRHsKOV4130_provenance.