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- source_evidence_curated type ECO_0000205 NP5487.RAnB2EhAbDdfNJGhB1U0cPq072TCTfZFlWeLQJTHhCVtw130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP5487.RAnB2EhAbDdfNJGhB1U0cPq072TCTfZFlWeLQJTHhCVtw130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP5487.RAnB2EhAbDdfNJGhB1U0cPq072TCTfZFlWeLQJTHhCVtw130_provenance.
- NP5487.RAnB2EhAbDdfNJGhB1U0cPq072TCTfZFlWeLQJTHhCVtw130_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." NP5487.RAnB2EhAbDdfNJGhB1U0cPq072TCTfZFlWeLQJTHhCVtw130_provenance.
- NP5487.RAnB2EhAbDdfNJGhB1U0cPq072TCTfZFlWeLQJTHhCVtw130_assertion evidence source_evidence_curated NP5487.RAnB2EhAbDdfNJGhB1U0cPq072TCTfZFlWeLQJTHhCVtw130_provenance.
- NP5487.RAnB2EhAbDdfNJGhB1U0cPq072TCTfZFlWeLQJTHhCVtw130_assertion SIO_000772 10484767 NP5487.RAnB2EhAbDdfNJGhB1U0cPq072TCTfZFlWeLQJTHhCVtw130_provenance.
- NP5487.RAnB2EhAbDdfNJGhB1U0cPq072TCTfZFlWeLQJTHhCVtw130_assertion wasDerivedFrom uniprot-20130724 NP5487.RAnB2EhAbDdfNJGhB1U0cPq072TCTfZFlWeLQJTHhCVtw130_provenance.
- NP5487.RAnB2EhAbDdfNJGhB1U0cPq072TCTfZFlWeLQJTHhCVtw130_assertion wasGeneratedBy ECO_0000218 NP5487.RAnB2EhAbDdfNJGhB1U0cPq072TCTfZFlWeLQJTHhCVtw130_provenance.
- uniprot-20130724 importedOn "2013-07-24" NP5487.RAnB2EhAbDdfNJGhB1U0cPq072TCTfZFlWeLQJTHhCVtw130_provenance.