Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP309.RAaqoA9-gevHJuYSWehZeazECOoDKCAS4S88DmnDLp3cs130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP309.RAaqoA9-gevHJuYSWehZeazECOoDKCAS4S88DmnDLp3cs130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP309.RAaqoA9-gevHJuYSWehZeazECOoDKCAS4S88DmnDLp3cs130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP309.RAaqoA9-gevHJuYSWehZeazECOoDKCAS4S88DmnDLp3cs130_provenance.
- uniprot-20150221 importedOn "2015-02-21" NP309.RAaqoA9-gevHJuYSWehZeazECOoDKCAS4S88DmnDLp3cs130_provenance.
- NP309.RAaqoA9-gevHJuYSWehZeazECOoDKCAS4S88DmnDLp3cs130_assertion wasGeneratedBy ECO_0000218 NP309.RAaqoA9-gevHJuYSWehZeazECOoDKCAS4S88DmnDLp3cs130_provenance.
- NP309.RAaqoA9-gevHJuYSWehZeazECOoDKCAS4S88DmnDLp3cs130_assertion wasDerivedFrom uniprot-20150221 NP309.RAaqoA9-gevHJuYSWehZeazECOoDKCAS4S88DmnDLp3cs130_provenance.
- NP309.RAaqoA9-gevHJuYSWehZeazECOoDKCAS4S88DmnDLp3cs130_assertion SIO_000772 15384097 NP309.RAaqoA9-gevHJuYSWehZeazECOoDKCAS4S88DmnDLp3cs130_provenance.
- NP309.RAaqoA9-gevHJuYSWehZeazECOoDKCAS4S88DmnDLp3cs130_assertion evidence source_evidence_curated NP309.RAaqoA9-gevHJuYSWehZeazECOoDKCAS4S88DmnDLp3cs130_provenance.
- NP309.RAaqoA9-gevHJuYSWehZeazECOoDKCAS4S88DmnDLp3cs130_assertion description "[Ocular coloboma and high myopia with Hirschsprung disease associated with a novel ZFHX1B missense mutation and trisomy 21.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP309.RAaqoA9-gevHJuYSWehZeazECOoDKCAS4S88DmnDLp3cs130_provenance.