Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP886729.RA6R_P0_HB9ADY078gsY3b75zFuvRT0JWNWj8tHvr30Os#assertion> ?p ?o ?g. }
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- assertion description "[Germline mutations of PTPN11 are causative of Noonan syndrome and LEOPARD syndrome in humans in which there are recognized skeletal abnormalities that include growth retardation, spinal curvature and chest malformations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion evidence source_evidence_literature provenance.
- assertion SIO_000772 25178522 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.