Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP122.RA1-EwlQR8P4oFCSSpGnn3NF4n8MFBM_EHrIabkuzBNjs130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP122.RA1-EwlQR8P4oFCSSpGnn3NF4n8MFBM_EHrIabkuzBNjs130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP122.RA1-EwlQR8P4oFCSSpGnn3NF4n8MFBM_EHrIabkuzBNjs130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP122.RA1-EwlQR8P4oFCSSpGnn3NF4n8MFBM_EHrIabkuzBNjs130_provenance.
- NP122.RA1-EwlQR8P4oFCSSpGnn3NF4n8MFBM_EHrIabkuzBNjs130_assertion description "[As in other metabolic disorders, the distinction between `normal` and `disease` in MCAD deficiency is blurring into a spectrum of enzyme deficiency states caused by different mutations in the ACADM gene potentially influenced by factors affecting intracellular protein processing.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP122.RA1-EwlQR8P4oFCSSpGnn3NF4n8MFBM_EHrIabkuzBNjs130_provenance.
- NP122.RA1-EwlQR8P4oFCSSpGnn3NF4n8MFBM_EHrIabkuzBNjs130_assertion evidence source_evidence_curated NP122.RA1-EwlQR8P4oFCSSpGnn3NF4n8MFBM_EHrIabkuzBNjs130_provenance.
- NP122.RA1-EwlQR8P4oFCSSpGnn3NF4n8MFBM_EHrIabkuzBNjs130_assertion SIO_000772 11409868 NP122.RA1-EwlQR8P4oFCSSpGnn3NF4n8MFBM_EHrIabkuzBNjs130_provenance.
- NP122.RA1-EwlQR8P4oFCSSpGnn3NF4n8MFBM_EHrIabkuzBNjs130_assertion wasDerivedFrom uniprot-20130724 NP122.RA1-EwlQR8P4oFCSSpGnn3NF4n8MFBM_EHrIabkuzBNjs130_provenance.
- NP122.RA1-EwlQR8P4oFCSSpGnn3NF4n8MFBM_EHrIabkuzBNjs130_assertion wasGeneratedBy ECO_0000218 NP122.RA1-EwlQR8P4oFCSSpGnn3NF4n8MFBM_EHrIabkuzBNjs130_provenance.
- uniprot-20130724 importedOn "2013-07-24" NP122.RA1-EwlQR8P4oFCSSpGnn3NF4n8MFBM_EHrIabkuzBNjs130_provenance.