Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP614.RA1tKB0FJw5H02Nu1uXCyhha-SKPTwfv_AAAq5k3MkbyQ130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP614.RA1tKB0FJw5H02Nu1uXCyhha-SKPTwfv_AAAq5k3MkbyQ130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP614.RA1tKB0FJw5H02Nu1uXCyhha-SKPTwfv_AAAq5k3MkbyQ130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP614.RA1tKB0FJw5H02Nu1uXCyhha-SKPTwfv_AAAq5k3MkbyQ130_provenance.
- NP614.RA1tKB0FJw5H02Nu1uXCyhha-SKPTwfv_AAAq5k3MkbyQ130_assertion description "[Multiple CYP1B1 mutations and incomplete penetrance in an inbred population segregating primary congenital glaucoma suggest frequent de novo events and a dominant modifier locus.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP614.RA1tKB0FJw5H02Nu1uXCyhha-SKPTwfv_AAAq5k3MkbyQ130_provenance.
- NP614.RA1tKB0FJw5H02Nu1uXCyhha-SKPTwfv_AAAq5k3MkbyQ130_assertion evidence source_evidence_curated NP614.RA1tKB0FJw5H02Nu1uXCyhha-SKPTwfv_AAAq5k3MkbyQ130_provenance.
- NP614.RA1tKB0FJw5H02Nu1uXCyhha-SKPTwfv_AAAq5k3MkbyQ130_assertion SIO_000772 10655546 NP614.RA1tKB0FJw5H02Nu1uXCyhha-SKPTwfv_AAAq5k3MkbyQ130_provenance.
- NP614.RA1tKB0FJw5H02Nu1uXCyhha-SKPTwfv_AAAq5k3MkbyQ130_assertion wasDerivedFrom uniprot-2016 NP614.RA1tKB0FJw5H02Nu1uXCyhha-SKPTwfv_AAAq5k3MkbyQ130_provenance.
- NP614.RA1tKB0FJw5H02Nu1uXCyhha-SKPTwfv_AAAq5k3MkbyQ130_assertion wasGeneratedBy ECO_0000218 NP614.RA1tKB0FJw5H02Nu1uXCyhha-SKPTwfv_AAAq5k3MkbyQ130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP614.RA1tKB0FJw5H02Nu1uXCyhha-SKPTwfv_AAAq5k3MkbyQ130_provenance.