Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP811465.RAqM5dSUCq_Y3IYAihJ3mbyw2U2fF7Yj8c26xIJ05OsVA130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP811465.RAqM5dSUCq_Y3IYAihJ3mbyw2U2fF7Yj8c26xIJ05OsVA130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP811465.RAqM5dSUCq_Y3IYAihJ3mbyw2U2fF7Yj8c26xIJ05OsVA130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP811465.RAqM5dSUCq_Y3IYAihJ3mbyw2U2fF7Yj8c26xIJ05OsVA130_provenance.
- NP811465.RAqM5dSUCq_Y3IYAihJ3mbyw2U2fF7Yj8c26xIJ05OsVA130_assertion description "[It usually occurs sporadically but familial cases are observed, with a subset of cases occurring in association with congenital malformations of the neural crest being linked to germline mutations of the PHOX2B gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP811465.RAqM5dSUCq_Y3IYAihJ3mbyw2U2fF7Yj8c26xIJ05OsVA130_provenance.
- NP811465.RAqM5dSUCq_Y3IYAihJ3mbyw2U2fF7Yj8c26xIJ05OsVA130_assertion evidence source_evidence_literature NP811465.RAqM5dSUCq_Y3IYAihJ3mbyw2U2fF7Yj8c26xIJ05OsVA130_provenance.
- NP811465.RAqM5dSUCq_Y3IYAihJ3mbyw2U2fF7Yj8c26xIJ05OsVA130_assertion SIO_000772 18923523 NP811465.RAqM5dSUCq_Y3IYAihJ3mbyw2U2fF7Yj8c26xIJ05OsVA130_provenance.
- NP811465.RAqM5dSUCq_Y3IYAihJ3mbyw2U2fF7Yj8c26xIJ05OsVA130_assertion wasDerivedFrom befree-20150227 NP811465.RAqM5dSUCq_Y3IYAihJ3mbyw2U2fF7Yj8c26xIJ05OsVA130_provenance.
- NP811465.RAqM5dSUCq_Y3IYAihJ3mbyw2U2fF7Yj8c26xIJ05OsVA130_assertion wasGeneratedBy ECO_0000203 NP811465.RAqM5dSUCq_Y3IYAihJ3mbyw2U2fF7Yj8c26xIJ05OsVA130_provenance.
- befree-20150227 importedOn "2015-02-27" NP811465.RAqM5dSUCq_Y3IYAihJ3mbyw2U2fF7Yj8c26xIJ05OsVA130_provenance.