Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP887094.RA4UzE-xShx2jasb32eWSM0cSzFpzwH1MV4KgQqsYcGj8#assertion> ?p ?o ?g. }
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- assertion wasGeneratedBy ECO_0000203 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion SIO_000772 22512561 provenance.
- assertion evidence source_evidence_literature provenance.
- assertion description "[Finally, mutations in the Ptpn11 gene (encoding SHP-2) underlie the developmental disorders Noonan syndrome and Leopard syndrome characterized by congenital heart disease and hematologic abnormalities.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.