Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP5153.RA_ZcWcEzIaBfLIqEHrohuwBw9RNryPKihUBvlBf5_1k8130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP5153.RA_ZcWcEzIaBfLIqEHrohuwBw9RNryPKihUBvlBf5_1k8130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP5153.RA_ZcWcEzIaBfLIqEHrohuwBw9RNryPKihUBvlBf5_1k8130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP5153.RA_ZcWcEzIaBfLIqEHrohuwBw9RNryPKihUBvlBf5_1k8130_provenance.
- NP5153.RA_ZcWcEzIaBfLIqEHrohuwBw9RNryPKihUBvlBf5_1k8130_assertion description "[Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5153.RA_ZcWcEzIaBfLIqEHrohuwBw9RNryPKihUBvlBf5_1k8130_provenance.
- NP5153.RA_ZcWcEzIaBfLIqEHrohuwBw9RNryPKihUBvlBf5_1k8130_assertion evidence source_evidence_curated NP5153.RA_ZcWcEzIaBfLIqEHrohuwBw9RNryPKihUBvlBf5_1k8130_provenance.
- NP5153.RA_ZcWcEzIaBfLIqEHrohuwBw9RNryPKihUBvlBf5_1k8130_assertion SIO_000772 22958903 NP5153.RA_ZcWcEzIaBfLIqEHrohuwBw9RNryPKihUBvlBf5_1k8130_provenance.
- NP5153.RA_ZcWcEzIaBfLIqEHrohuwBw9RNryPKihUBvlBf5_1k8130_assertion wasDerivedFrom uniprot-20130724 NP5153.RA_ZcWcEzIaBfLIqEHrohuwBw9RNryPKihUBvlBf5_1k8130_provenance.
- NP5153.RA_ZcWcEzIaBfLIqEHrohuwBw9RNryPKihUBvlBf5_1k8130_assertion wasGeneratedBy ECO_0000218 NP5153.RA_ZcWcEzIaBfLIqEHrohuwBw9RNryPKihUBvlBf5_1k8130_provenance.
- uniprot-20130724 importedOn "2013-07-24" NP5153.RA_ZcWcEzIaBfLIqEHrohuwBw9RNryPKihUBvlBf5_1k8130_provenance.