Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP13012.RAztI7-6I-La5JQ0eMdEyDNH_6KTTNclsRBy2v4vIz9SI130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP13012.RAztI7-6I-La5JQ0eMdEyDNH_6KTTNclsRBy2v4vIz9SI130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP13012.RAztI7-6I-La5JQ0eMdEyDNH_6KTTNclsRBy2v4vIz9SI130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP13012.RAztI7-6I-La5JQ0eMdEyDNH_6KTTNclsRBy2v4vIz9SI130_provenance.
- NP13012.RAztI7-6I-La5JQ0eMdEyDNH_6KTTNclsRBy2v4vIz9SI130_assertion description "[We report on the striking variable expression of adenylosuccinate lyase (ADSL) deficiency in three patients belonging to a family which originates from Portugal.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP13012.RAztI7-6I-La5JQ0eMdEyDNH_6KTTNclsRBy2v4vIz9SI130_provenance.
- NP13012.RAztI7-6I-La5JQ0eMdEyDNH_6KTTNclsRBy2v4vIz9SI130_assertion evidence source_evidence_curated NP13012.RAztI7-6I-La5JQ0eMdEyDNH_6KTTNclsRBy2v4vIz9SI130_provenance.
- NP13012.RAztI7-6I-La5JQ0eMdEyDNH_6KTTNclsRBy2v4vIz9SI130_assertion SIO_000772 12833398 NP13012.RAztI7-6I-La5JQ0eMdEyDNH_6KTTNclsRBy2v4vIz9SI130_provenance.
- NP13012.RAztI7-6I-La5JQ0eMdEyDNH_6KTTNclsRBy2v4vIz9SI130_assertion wasDerivedFrom ctd_human-2016 NP13012.RAztI7-6I-La5JQ0eMdEyDNH_6KTTNclsRBy2v4vIz9SI130_provenance.
- NP13012.RAztI7-6I-La5JQ0eMdEyDNH_6KTTNclsRBy2v4vIz9SI130_assertion wasGeneratedBy ECO_0000218 NP13012.RAztI7-6I-La5JQ0eMdEyDNH_6KTTNclsRBy2v4vIz9SI130_provenance.
- ctd_human-2016 importedOn "2016-01-25" NP13012.RAztI7-6I-La5JQ0eMdEyDNH_6KTTNclsRBy2v4vIz9SI130_provenance.