Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP1529.RAakoNt89b7OO98_VO-ZNoe7n9HfLIfuwU3wYudSoqbnI130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP1529.RAakoNt89b7OO98_VO-ZNoe7n9HfLIfuwU3wYudSoqbnI130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP1529.RAakoNt89b7OO98_VO-ZNoe7n9HfLIfuwU3wYudSoqbnI130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP1529.RAakoNt89b7OO98_VO-ZNoe7n9HfLIfuwU3wYudSoqbnI130_provenance.
- NP1529.RAakoNt89b7OO98_VO-ZNoe7n9HfLIfuwU3wYudSoqbnI130_assertion description "[This is to our knowledge the first demonstration of a PAH missense variant with no apparent association to PAH deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1529.RAakoNt89b7OO98_VO-ZNoe7n9HfLIfuwU3wYudSoqbnI130_provenance.
- NP1529.RAakoNt89b7OO98_VO-ZNoe7n9HfLIfuwU3wYudSoqbnI130_assertion evidence source_evidence_curated NP1529.RAakoNt89b7OO98_VO-ZNoe7n9HfLIfuwU3wYudSoqbnI130_provenance.
- NP1529.RAakoNt89b7OO98_VO-ZNoe7n9HfLIfuwU3wYudSoqbnI130_assertion SIO_000772 11461196 NP1529.RAakoNt89b7OO98_VO-ZNoe7n9HfLIfuwU3wYudSoqbnI130_provenance.
- NP1529.RAakoNt89b7OO98_VO-ZNoe7n9HfLIfuwU3wYudSoqbnI130_assertion wasDerivedFrom uniprot-2016 NP1529.RAakoNt89b7OO98_VO-ZNoe7n9HfLIfuwU3wYudSoqbnI130_provenance.
- NP1529.RAakoNt89b7OO98_VO-ZNoe7n9HfLIfuwU3wYudSoqbnI130_assertion wasGeneratedBy ECO_0000218 NP1529.RAakoNt89b7OO98_VO-ZNoe7n9HfLIfuwU3wYudSoqbnI130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP1529.RAakoNt89b7OO98_VO-ZNoe7n9HfLIfuwU3wYudSoqbnI130_provenance.