Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP921814.RAFK8FW8lBYB2hA9czo-08GswQkMvHveaC3kHR5b-meI4130_assertion> ?p ?o ?g. }
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- NP921814.RAFK8FW8lBYB2hA9czo-08GswQkMvHveaC3kHR5b-meI4130_assertion type Assertion NP921814.RAFK8FW8lBYB2hA9czo-08GswQkMvHveaC3kHR5b-meI4130_head.
- NP921814.RAFK8FW8lBYB2hA9czo-08GswQkMvHveaC3kHR5b-meI4130_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." NP921814.RAFK8FW8lBYB2hA9czo-08GswQkMvHveaC3kHR5b-meI4130_provenance.
- NP921814.RAFK8FW8lBYB2hA9czo-08GswQkMvHveaC3kHR5b-meI4130_assertion evidence source_evidence_literature NP921814.RAFK8FW8lBYB2hA9czo-08GswQkMvHveaC3kHR5b-meI4130_provenance.
- NP921814.RAFK8FW8lBYB2hA9czo-08GswQkMvHveaC3kHR5b-meI4130_assertion SIO_000772 10484767 NP921814.RAFK8FW8lBYB2hA9czo-08GswQkMvHveaC3kHR5b-meI4130_provenance.
- NP921814.RAFK8FW8lBYB2hA9czo-08GswQkMvHveaC3kHR5b-meI4130_assertion wasDerivedFrom befree-20140225 NP921814.RAFK8FW8lBYB2hA9czo-08GswQkMvHveaC3kHR5b-meI4130_provenance.
- NP921814.RAFK8FW8lBYB2hA9czo-08GswQkMvHveaC3kHR5b-meI4130_assertion wasGeneratedBy ECO_0000203 NP921814.RAFK8FW8lBYB2hA9czo-08GswQkMvHveaC3kHR5b-meI4130_provenance.