Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP384.RAgFBTM8nONxVzv0WmpJw-QfA7ci1ZvNcE3-ZkCtubp-A130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP384.RAgFBTM8nONxVzv0WmpJw-QfA7ci1ZvNcE3-ZkCtubp-A130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP384.RAgFBTM8nONxVzv0WmpJw-QfA7ci1ZvNcE3-ZkCtubp-A130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP384.RAgFBTM8nONxVzv0WmpJw-QfA7ci1ZvNcE3-ZkCtubp-A130_provenance.
- NP384.RAgFBTM8nONxVzv0WmpJw-QfA7ci1ZvNcE3-ZkCtubp-A130_assertion description "[Two distinct mutations of the RET receptor causing Hirschsprung's disease impair the binding of signalling effectors to a multifunctional docking site.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP384.RAgFBTM8nONxVzv0WmpJw-QfA7ci1ZvNcE3-ZkCtubp-A130_provenance.
- NP384.RAgFBTM8nONxVzv0WmpJw-QfA7ci1ZvNcE3-ZkCtubp-A130_assertion evidence source_evidence_curated NP384.RAgFBTM8nONxVzv0WmpJw-QfA7ci1ZvNcE3-ZkCtubp-A130_provenance.
- NP384.RAgFBTM8nONxVzv0WmpJw-QfA7ci1ZvNcE3-ZkCtubp-A130_assertion SIO_000772 10484767 NP384.RAgFBTM8nONxVzv0WmpJw-QfA7ci1ZvNcE3-ZkCtubp-A130_provenance.
- NP384.RAgFBTM8nONxVzv0WmpJw-QfA7ci1ZvNcE3-ZkCtubp-A130_assertion wasDerivedFrom uniprot-2016 NP384.RAgFBTM8nONxVzv0WmpJw-QfA7ci1ZvNcE3-ZkCtubp-A130_provenance.
- NP384.RAgFBTM8nONxVzv0WmpJw-QfA7ci1ZvNcE3-ZkCtubp-A130_assertion wasGeneratedBy ECO_0000218 NP384.RAgFBTM8nONxVzv0WmpJw-QfA7ci1ZvNcE3-ZkCtubp-A130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP384.RAgFBTM8nONxVzv0WmpJw-QfA7ci1ZvNcE3-ZkCtubp-A130_provenance.