Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP5663.RAr5Mh0I0EBS7YqaeO07sWoV4aP6yoMFz4Yysv_KKvItY130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP5663.RAr5Mh0I0EBS7YqaeO07sWoV4aP6yoMFz4Yysv_KKvItY130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP5663.RAr5Mh0I0EBS7YqaeO07sWoV4aP6yoMFz4Yysv_KKvItY130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP5663.RAr5Mh0I0EBS7YqaeO07sWoV4aP6yoMFz4Yysv_KKvItY130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP5663.RAr5Mh0I0EBS7YqaeO07sWoV4aP6yoMFz4Yysv_KKvItY130_provenance.
- NP5663.RAr5Mh0I0EBS7YqaeO07sWoV4aP6yoMFz4Yysv_KKvItY130_assertion wasGeneratedBy ECO_0000218 NP5663.RAr5Mh0I0EBS7YqaeO07sWoV4aP6yoMFz4Yysv_KKvItY130_provenance.
- NP5663.RAr5Mh0I0EBS7YqaeO07sWoV4aP6yoMFz4Yysv_KKvItY130_assertion wasDerivedFrom uniprot-2016 NP5663.RAr5Mh0I0EBS7YqaeO07sWoV4aP6yoMFz4Yysv_KKvItY130_provenance.
- NP5663.RAr5Mh0I0EBS7YqaeO07sWoV4aP6yoMFz4Yysv_KKvItY130_assertion SIO_000772 19177531 NP5663.RAr5Mh0I0EBS7YqaeO07sWoV4aP6yoMFz4Yysv_KKvItY130_provenance.
- NP5663.RAr5Mh0I0EBS7YqaeO07sWoV4aP6yoMFz4Yysv_KKvItY130_assertion evidence source_evidence_curated NP5663.RAr5Mh0I0EBS7YqaeO07sWoV4aP6yoMFz4Yysv_KKvItY130_provenance.
- NP5663.RAr5Mh0I0EBS7YqaeO07sWoV4aP6yoMFz4Yysv_KKvItY130_assertion description "[Ten novel HMGCL mutations in 24 patients of different origin with 3-hydroxy-3-methyl-glutaric aciduria.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5663.RAr5Mh0I0EBS7YqaeO07sWoV4aP6yoMFz4Yysv_KKvItY130_provenance.