Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP517895.RAiech02O7wUIvEBjNXJjIeR-GZhkjS1BIqV_j85G61ts#assertion> ?p ?o ?g. }
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- assertion wasGeneratedBy ECO_0000203 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion SIO_000772 17054105 provenance.
- assertion evidence source_evidence_literature provenance.
- assertion description "[To further investigate the phenotypic spectrum associated with germline HRAS mutations and characterize their molecular diversity, subjects with a diagnosis of CS (N = 9), Noonan syndrome (NS; N = 36), cardiofaciocutaneous syndrome (CFCS; N = 4), or with a phenotype suggestive of these conditions but without a definitive diagnosis (N = 12) were screened for the entire coding sequence of the gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.