Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP566.RAYlcZaSobjput7ytcekyt7XlLeP-rmgz4Yn7xqD04HzE130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP566.RAYlcZaSobjput7ytcekyt7XlLeP-rmgz4Yn7xqD04HzE130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP566.RAYlcZaSobjput7ytcekyt7XlLeP-rmgz4Yn7xqD04HzE130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP566.RAYlcZaSobjput7ytcekyt7XlLeP-rmgz4Yn7xqD04HzE130_provenance.
- NP566.RAYlcZaSobjput7ytcekyt7XlLeP-rmgz4Yn7xqD04HzE130_assertion description "[The full spectrum of holoprosencephaly-associated mutations within the ZIC2 gene in humans predicts loss-of-function as the predominant disease mechanism.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP566.RAYlcZaSobjput7ytcekyt7XlLeP-rmgz4Yn7xqD04HzE130_provenance.
- NP566.RAYlcZaSobjput7ytcekyt7XlLeP-rmgz4Yn7xqD04HzE130_assertion evidence source_evidence_curated NP566.RAYlcZaSobjput7ytcekyt7XlLeP-rmgz4Yn7xqD04HzE130_provenance.
- NP566.RAYlcZaSobjput7ytcekyt7XlLeP-rmgz4Yn7xqD04HzE130_assertion SIO_000772 19177455 NP566.RAYlcZaSobjput7ytcekyt7XlLeP-rmgz4Yn7xqD04HzE130_provenance.
- NP566.RAYlcZaSobjput7ytcekyt7XlLeP-rmgz4Yn7xqD04HzE130_assertion wasDerivedFrom uniprot-20150221 NP566.RAYlcZaSobjput7ytcekyt7XlLeP-rmgz4Yn7xqD04HzE130_provenance.
- NP566.RAYlcZaSobjput7ytcekyt7XlLeP-rmgz4Yn7xqD04HzE130_assertion wasGeneratedBy ECO_0000218 NP566.RAYlcZaSobjput7ytcekyt7XlLeP-rmgz4Yn7xqD04HzE130_provenance.
- uniprot-20150221 importedOn "2015-02-21" NP566.RAYlcZaSobjput7ytcekyt7XlLeP-rmgz4Yn7xqD04HzE130_provenance.