Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP467.RAJEiAS0-4WGQHUZTjMtzS4qjHrvEoSGaOXFE1SAW1KrI130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP467.RAJEiAS0-4WGQHUZTjMtzS4qjHrvEoSGaOXFE1SAW1KrI130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP467.RAJEiAS0-4WGQHUZTjMtzS4qjHrvEoSGaOXFE1SAW1KrI130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP467.RAJEiAS0-4WGQHUZTjMtzS4qjHrvEoSGaOXFE1SAW1KrI130_provenance.
- NP467.RAJEiAS0-4WGQHUZTjMtzS4qjHrvEoSGaOXFE1SAW1KrI130_assertion description "[Comprehensive mutation analysis in OFD1 revealed mutations in 37 female patients from 30 families; 22 mutations have not been previously described including two heterozygous deletions spanning OFD1 and neighbouring genes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP467.RAJEiAS0-4WGQHUZTjMtzS4qjHrvEoSGaOXFE1SAW1KrI130_provenance.
- NP467.RAJEiAS0-4WGQHUZTjMtzS4qjHrvEoSGaOXFE1SAW1KrI130_assertion evidence source_evidence_curated NP467.RAJEiAS0-4WGQHUZTjMtzS4qjHrvEoSGaOXFE1SAW1KrI130_provenance.
- NP467.RAJEiAS0-4WGQHUZTjMtzS4qjHrvEoSGaOXFE1SAW1KrI130_assertion SIO_000772 23033313 NP467.RAJEiAS0-4WGQHUZTjMtzS4qjHrvEoSGaOXFE1SAW1KrI130_provenance.
- NP467.RAJEiAS0-4WGQHUZTjMtzS4qjHrvEoSGaOXFE1SAW1KrI130_assertion wasDerivedFrom uniprot-20150221 NP467.RAJEiAS0-4WGQHUZTjMtzS4qjHrvEoSGaOXFE1SAW1KrI130_provenance.
- NP467.RAJEiAS0-4WGQHUZTjMtzS4qjHrvEoSGaOXFE1SAW1KrI130_assertion wasGeneratedBy ECO_0000218 NP467.RAJEiAS0-4WGQHUZTjMtzS4qjHrvEoSGaOXFE1SAW1KrI130_provenance.
- uniprot-20150221 importedOn "2015-02-21" NP467.RAJEiAS0-4WGQHUZTjMtzS4qjHrvEoSGaOXFE1SAW1KrI130_provenance.