Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP887177.RAL_25qo3SBcZN2IXOyJCwg5iBQpSWqd_WBE4YmOakS7g#assertion> ?p ?o ?g. }
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- assertion description "[Germline mutations in PTPN11--the gene encoding the nonreceptor protein tyrosine phosphatase SHP-2--represent a major cause of Noonan syndrome (NS), a developmental disorder characterized by short stature and facial dysmorphism, as well as skeletal, hematologic, and congenital heart defects.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion evidence source_evidence_literature provenance.
- assertion SIO_000772 15248152 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.