Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP31296.RAISy1HyPB8z2X5MvJeaxo9rR18d-HbKDNlwkNSFfZ0nc130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP31296.RAISy1HyPB8z2X5MvJeaxo9rR18d-HbKDNlwkNSFfZ0nc130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP31296.RAISy1HyPB8z2X5MvJeaxo9rR18d-HbKDNlwkNSFfZ0nc130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP31296.RAISy1HyPB8z2X5MvJeaxo9rR18d-HbKDNlwkNSFfZ0nc130_provenance.
- NP31296.RAISy1HyPB8z2X5MvJeaxo9rR18d-HbKDNlwkNSFfZ0nc130_assertion description "[Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP31296.RAISy1HyPB8z2X5MvJeaxo9rR18d-HbKDNlwkNSFfZ0nc130_provenance.
- NP31296.RAISy1HyPB8z2X5MvJeaxo9rR18d-HbKDNlwkNSFfZ0nc130_assertion evidence source_evidence_curated NP31296.RAISy1HyPB8z2X5MvJeaxo9rR18d-HbKDNlwkNSFfZ0nc130_provenance.
- NP31296.RAISy1HyPB8z2X5MvJeaxo9rR18d-HbKDNlwkNSFfZ0nc130_assertion SIO_000772 23542699 NP31296.RAISy1HyPB8z2X5MvJeaxo9rR18d-HbKDNlwkNSFfZ0nc130_provenance.
- NP31296.RAISy1HyPB8z2X5MvJeaxo9rR18d-HbKDNlwkNSFfZ0nc130_assertion wasDerivedFrom ctd_human-20150221 NP31296.RAISy1HyPB8z2X5MvJeaxo9rR18d-HbKDNlwkNSFfZ0nc130_provenance.
- NP31296.RAISy1HyPB8z2X5MvJeaxo9rR18d-HbKDNlwkNSFfZ0nc130_assertion wasGeneratedBy ECO_0000218 NP31296.RAISy1HyPB8z2X5MvJeaxo9rR18d-HbKDNlwkNSFfZ0nc130_provenance.
- ctd_human-20150221 importedOn "2015-02-21" NP31296.RAISy1HyPB8z2X5MvJeaxo9rR18d-HbKDNlwkNSFfZ0nc130_provenance.