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- source_evidence_literature type ECO_0000212 NP202034.RA-d3DIeITWzmNE2_lacZXjSCEdSgXhm5sMBM7Tvf0Xxs130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP202034.RA-d3DIeITWzmNE2_lacZXjSCEdSgXhm5sMBM7Tvf0Xxs130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP202034.RA-d3DIeITWzmNE2_lacZXjSCEdSgXhm5sMBM7Tvf0Xxs130_provenance.
- NP202034.RA-d3DIeITWzmNE2_lacZXjSCEdSgXhm5sMBM7Tvf0Xxs130_assertion description "[Loss-of-function germline mutations of the RET proto-oncogene are reported in familial and sporadic cases of Hirschsprung disease (HSCR) with a variable frequency ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP202034.RA-d3DIeITWzmNE2_lacZXjSCEdSgXhm5sMBM7Tvf0Xxs130_provenance.
- NP202034.RA-d3DIeITWzmNE2_lacZXjSCEdSgXhm5sMBM7Tvf0Xxs130_assertion evidence source_evidence_literature NP202034.RA-d3DIeITWzmNE2_lacZXjSCEdSgXhm5sMBM7Tvf0Xxs130_provenance.
- NP202034.RA-d3DIeITWzmNE2_lacZXjSCEdSgXhm5sMBM7Tvf0Xxs130_assertion SIO_000772 14600022 NP202034.RA-d3DIeITWzmNE2_lacZXjSCEdSgXhm5sMBM7Tvf0Xxs130_provenance.
- NP202034.RA-d3DIeITWzmNE2_lacZXjSCEdSgXhm5sMBM7Tvf0Xxs130_assertion wasDerivedFrom lhgdn-20090331 NP202034.RA-d3DIeITWzmNE2_lacZXjSCEdSgXhm5sMBM7Tvf0Xxs130_provenance.
- NP202034.RA-d3DIeITWzmNE2_lacZXjSCEdSgXhm5sMBM7Tvf0Xxs130_assertion wasGeneratedBy ECO_0000203 NP202034.RA-d3DIeITWzmNE2_lacZXjSCEdSgXhm5sMBM7Tvf0Xxs130_provenance.
- lhgdn-20090331 importedOn "2009-03-31" NP202034.RA-d3DIeITWzmNE2_lacZXjSCEdSgXhm5sMBM7Tvf0Xxs130_provenance.