Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP35413.RAiFHAGVOtyrFFOYBWtmc-m5zQeM8DJm9SixLIQGHxRtk#provenance>. }
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- source_evidence_curated type ECO_0000205 provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." provenance.
- assertion description "[The disruptive nature of two mutations (i.e., the frameshift and the nonsense mutation) in patients with biochemically proved childhood ALD and AMN further strongly supports the hypothesis that alterations in this gene play a crucial role in the pathogenesis of X-ALD.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion evidence source_evidence_curated provenance.
- assertion SIO_000772 7717396 provenance.
- assertion wasDerivedFrom UNIPROT provenance.
- assertion wasGeneratedBy ECO_0000218 provenance.
- UNIPROT importedOn "2017-01-25" provenance.