Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP262838.RAVnUjwN3o_tDXV8RCJRfM_oQlYPj9Pp87wQNYrArd7q0130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP262838.RAVnUjwN3o_tDXV8RCJRfM_oQlYPj9Pp87wQNYrArd7q0130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP262838.RAVnUjwN3o_tDXV8RCJRfM_oQlYPj9Pp87wQNYrArd7q0130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP262838.RAVnUjwN3o_tDXV8RCJRfM_oQlYPj9Pp87wQNYrArd7q0130_provenance.
- NP262838.RAVnUjwN3o_tDXV8RCJRfM_oQlYPj9Pp87wQNYrArd7q0130_assertion description "[Germline mutations of RET cause a dominantly inherited dysgenesis of the enteric nervous system known as Hirschsprung's disease (HSCR; aganglionosis megacolon).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP262838.RAVnUjwN3o_tDXV8RCJRfM_oQlYPj9Pp87wQNYrArd7q0130_provenance.
- NP262838.RAVnUjwN3o_tDXV8RCJRfM_oQlYPj9Pp87wQNYrArd7q0130_assertion evidence source_evidence_literature NP262838.RAVnUjwN3o_tDXV8RCJRfM_oQlYPj9Pp87wQNYrArd7q0130_provenance.
- NP262838.RAVnUjwN3o_tDXV8RCJRfM_oQlYPj9Pp87wQNYrArd7q0130_assertion SIO_000772 10484767 NP262838.RAVnUjwN3o_tDXV8RCJRfM_oQlYPj9Pp87wQNYrArd7q0130_provenance.
- NP262838.RAVnUjwN3o_tDXV8RCJRfM_oQlYPj9Pp87wQNYrArd7q0130_assertion wasDerivedFrom befree-2016 NP262838.RAVnUjwN3o_tDXV8RCJRfM_oQlYPj9Pp87wQNYrArd7q0130_provenance.
- NP262838.RAVnUjwN3o_tDXV8RCJRfM_oQlYPj9Pp87wQNYrArd7q0130_assertion wasGeneratedBy ECO_0000203 NP262838.RAVnUjwN3o_tDXV8RCJRfM_oQlYPj9Pp87wQNYrArd7q0130_provenance.
- befree-2016 importedOn "2016-02-19" NP262838.RAVnUjwN3o_tDXV8RCJRfM_oQlYPj9Pp87wQNYrArd7q0130_provenance.