Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP9339.RALTRs5AvQUMd7ARAkQrap36x8YpwyssZ0W0zNlQW_hyE130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP9339.RALTRs5AvQUMd7ARAkQrap36x8YpwyssZ0W0zNlQW_hyE130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP9339.RALTRs5AvQUMd7ARAkQrap36x8YpwyssZ0W0zNlQW_hyE130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP9339.RALTRs5AvQUMd7ARAkQrap36x8YpwyssZ0W0zNlQW_hyE130_provenance.
- NP9339.RALTRs5AvQUMd7ARAkQrap36x8YpwyssZ0W0zNlQW_hyE130_assertion description "[Metachromatic leukodystrophy: identification of the first deletion in exon 1 and of nine novel point mutations in the arylsulfatase A gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP9339.RALTRs5AvQUMd7ARAkQrap36x8YpwyssZ0W0zNlQW_hyE130_provenance.
- NP9339.RALTRs5AvQUMd7ARAkQrap36x8YpwyssZ0W0zNlQW_hyE130_assertion evidence source_evidence_curated NP9339.RALTRs5AvQUMd7ARAkQrap36x8YpwyssZ0W0zNlQW_hyE130_provenance.
- NP9339.RALTRs5AvQUMd7ARAkQrap36x8YpwyssZ0W0zNlQW_hyE130_assertion SIO_000772 9090526 NP9339.RALTRs5AvQUMd7ARAkQrap36x8YpwyssZ0W0zNlQW_hyE130_provenance.
- NP9339.RALTRs5AvQUMd7ARAkQrap36x8YpwyssZ0W0zNlQW_hyE130_assertion wasDerivedFrom uniprot-2016 NP9339.RALTRs5AvQUMd7ARAkQrap36x8YpwyssZ0W0zNlQW_hyE130_provenance.
- NP9339.RALTRs5AvQUMd7ARAkQrap36x8YpwyssZ0W0zNlQW_hyE130_assertion wasGeneratedBy ECO_0000218 NP9339.RALTRs5AvQUMd7ARAkQrap36x8YpwyssZ0W0zNlQW_hyE130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP9339.RALTRs5AvQUMd7ARAkQrap36x8YpwyssZ0W0zNlQW_hyE130_provenance.