Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP291.RAqhkNKMeyQq9IRtiSUePVqp1zy0HhHY8ay6I8sijBpX4130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP291.RAqhkNKMeyQq9IRtiSUePVqp1zy0HhHY8ay6I8sijBpX4130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP291.RAqhkNKMeyQq9IRtiSUePVqp1zy0HhHY8ay6I8sijBpX4130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP291.RAqhkNKMeyQq9IRtiSUePVqp1zy0HhHY8ay6I8sijBpX4130_provenance.
- NP291.RAqhkNKMeyQq9IRtiSUePVqp1zy0HhHY8ay6I8sijBpX4130_assertion description "[Distinct clinical phenotype and immunoreactivity in Japanese siblings with autoimmune polyglandular syndrome type 1 (APS-1) associated with compound heterozygous novel AIRE gene mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP291.RAqhkNKMeyQq9IRtiSUePVqp1zy0HhHY8ay6I8sijBpX4130_provenance.
- NP291.RAqhkNKMeyQq9IRtiSUePVqp1zy0HhHY8ay6I8sijBpX4130_assertion evidence source_evidence_curated NP291.RAqhkNKMeyQq9IRtiSUePVqp1zy0HhHY8ay6I8sijBpX4130_provenance.
- NP291.RAqhkNKMeyQq9IRtiSUePVqp1zy0HhHY8ay6I8sijBpX4130_assertion SIO_000772 12173302 NP291.RAqhkNKMeyQq9IRtiSUePVqp1zy0HhHY8ay6I8sijBpX4130_provenance.
- NP291.RAqhkNKMeyQq9IRtiSUePVqp1zy0HhHY8ay6I8sijBpX4130_assertion wasDerivedFrom uniprot-20150221 NP291.RAqhkNKMeyQq9IRtiSUePVqp1zy0HhHY8ay6I8sijBpX4130_provenance.
- NP291.RAqhkNKMeyQq9IRtiSUePVqp1zy0HhHY8ay6I8sijBpX4130_assertion wasGeneratedBy ECO_0000218 NP291.RAqhkNKMeyQq9IRtiSUePVqp1zy0HhHY8ay6I8sijBpX4130_provenance.
- uniprot-20150221 importedOn "2015-02-21" NP291.RAqhkNKMeyQq9IRtiSUePVqp1zy0HhHY8ay6I8sijBpX4130_provenance.