Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP9202.RAnQ5h_5YX74TAp1qRc46peUmHF8zPRsjZYN8X94qowOk130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP9202.RAnQ5h_5YX74TAp1qRc46peUmHF8zPRsjZYN8X94qowOk130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP9202.RAnQ5h_5YX74TAp1qRc46peUmHF8zPRsjZYN8X94qowOk130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP9202.RAnQ5h_5YX74TAp1qRc46peUmHF8zPRsjZYN8X94qowOk130_provenance.
- NP9202.RAnQ5h_5YX74TAp1qRc46peUmHF8zPRsjZYN8X94qowOk130_assertion description "[Two novel mutations in the arylsulfatase A (ASA) gene from a Japanese patient with the late-infantile form of metachromatic leukodystrophy (MLD) were identified.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP9202.RAnQ5h_5YX74TAp1qRc46peUmHF8zPRsjZYN8X94qowOk130_provenance.
- NP9202.RAnQ5h_5YX74TAp1qRc46peUmHF8zPRsjZYN8X94qowOk130_assertion evidence source_evidence_curated NP9202.RAnQ5h_5YX74TAp1qRc46peUmHF8zPRsjZYN8X94qowOk130_provenance.
- NP9202.RAnQ5h_5YX74TAp1qRc46peUmHF8zPRsjZYN8X94qowOk130_assertion SIO_000772 8891236 NP9202.RAnQ5h_5YX74TAp1qRc46peUmHF8zPRsjZYN8X94qowOk130_provenance.
- NP9202.RAnQ5h_5YX74TAp1qRc46peUmHF8zPRsjZYN8X94qowOk130_assertion wasDerivedFrom uniprot-2016 NP9202.RAnQ5h_5YX74TAp1qRc46peUmHF8zPRsjZYN8X94qowOk130_provenance.
- NP9202.RAnQ5h_5YX74TAp1qRc46peUmHF8zPRsjZYN8X94qowOk130_assertion wasGeneratedBy ECO_0000218 NP9202.RAnQ5h_5YX74TAp1qRc46peUmHF8zPRsjZYN8X94qowOk130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP9202.RAnQ5h_5YX74TAp1qRc46peUmHF8zPRsjZYN8X94qowOk130_provenance.