Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP6616.RAcu6T75Pv9R720q8eec-CIodEJhpFDQtGXUY4hjRjIns130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP6616.RAcu6T75Pv9R720q8eec-CIodEJhpFDQtGXUY4hjRjIns130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP6616.RAcu6T75Pv9R720q8eec-CIodEJhpFDQtGXUY4hjRjIns130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP6616.RAcu6T75Pv9R720q8eec-CIodEJhpFDQtGXUY4hjRjIns130_provenance.
- NP6616.RAcu6T75Pv9R720q8eec-CIodEJhpFDQtGXUY4hjRjIns130_assertion description "[We now report that MKS2 and CORS2 (JBTS2) loci are allelic and caused by mutations in TMEM216, which encodes an uncharacterized tetraspan transmembrane protein.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6616.RAcu6T75Pv9R720q8eec-CIodEJhpFDQtGXUY4hjRjIns130_provenance.
- NP6616.RAcu6T75Pv9R720q8eec-CIodEJhpFDQtGXUY4hjRjIns130_assertion evidence source_evidence_curated NP6616.RAcu6T75Pv9R720q8eec-CIodEJhpFDQtGXUY4hjRjIns130_provenance.
- NP6616.RAcu6T75Pv9R720q8eec-CIodEJhpFDQtGXUY4hjRjIns130_assertion SIO_000772 20512146 NP6616.RAcu6T75Pv9R720q8eec-CIodEJhpFDQtGXUY4hjRjIns130_provenance.
- NP6616.RAcu6T75Pv9R720q8eec-CIodEJhpFDQtGXUY4hjRjIns130_assertion wasDerivedFrom uniprot-20130724 NP6616.RAcu6T75Pv9R720q8eec-CIodEJhpFDQtGXUY4hjRjIns130_provenance.
- NP6616.RAcu6T75Pv9R720q8eec-CIodEJhpFDQtGXUY4hjRjIns130_assertion wasGeneratedBy ECO_0000218 NP6616.RAcu6T75Pv9R720q8eec-CIodEJhpFDQtGXUY4hjRjIns130_provenance.
- uniprot-20130724 importedOn "2013-07-24" NP6616.RAcu6T75Pv9R720q8eec-CIodEJhpFDQtGXUY4hjRjIns130_provenance.