Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP125.RA7950oH7OeCC7eMfCuA8wKFm3YR5_HcSUaLG7tXabG7Y130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP125.RA7950oH7OeCC7eMfCuA8wKFm3YR5_HcSUaLG7tXabG7Y130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP125.RA7950oH7OeCC7eMfCuA8wKFm3YR5_HcSUaLG7tXabG7Y130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP125.RA7950oH7OeCC7eMfCuA8wKFm3YR5_HcSUaLG7tXabG7Y130_provenance.
- NP125.RA7950oH7OeCC7eMfCuA8wKFm3YR5_HcSUaLG7tXabG7Y130_assertion description "[Short/branched-chain acyl-CoA dehydrogenase deficiency due to an IVS3+3A>G mutation that causes exon skipping.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP125.RA7950oH7OeCC7eMfCuA8wKFm3YR5_HcSUaLG7tXabG7Y130_provenance.
- NP125.RA7950oH7OeCC7eMfCuA8wKFm3YR5_HcSUaLG7tXabG7Y130_assertion evidence source_evidence_curated NP125.RA7950oH7OeCC7eMfCuA8wKFm3YR5_HcSUaLG7tXabG7Y130_provenance.
- NP125.RA7950oH7OeCC7eMfCuA8wKFm3YR5_HcSUaLG7tXabG7Y130_assertion SIO_000772 16317551 NP125.RA7950oH7OeCC7eMfCuA8wKFm3YR5_HcSUaLG7tXabG7Y130_provenance.
- NP125.RA7950oH7OeCC7eMfCuA8wKFm3YR5_HcSUaLG7tXabG7Y130_assertion wasDerivedFrom uniprot-20130724 NP125.RA7950oH7OeCC7eMfCuA8wKFm3YR5_HcSUaLG7tXabG7Y130_provenance.
- NP125.RA7950oH7OeCC7eMfCuA8wKFm3YR5_HcSUaLG7tXabG7Y130_assertion wasGeneratedBy ECO_0000218 NP125.RA7950oH7OeCC7eMfCuA8wKFm3YR5_HcSUaLG7tXabG7Y130_provenance.
- uniprot-20130724 importedOn "2013-07-24" NP125.RA7950oH7OeCC7eMfCuA8wKFm3YR5_HcSUaLG7tXabG7Y130_provenance.