Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP903516.RAFGH9HcQDZc6gno8B7044LfWvsLFaMsAU8cma1ZK-RfU#assertion> ?p ?o ?g. }
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- assertion description "[Gain-of-function RET mutations are responsible for multiple endocrine neoplasia syndromes (MEN) 2A and 2B and familial medullary thyroid carcinoma (FMTC), whereas loss-of-function mutations are found in Hirschsprung disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion evidence source_evidence_literature provenance.
- assertion SIO_000772 15472167 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.