Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP886778.RArG61waEW6V6dxcKO8ByiV_G5eIu_3_0ix4cQJjJGRds#assertion> ?p ?o ?g. }
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- assertion description "[The baby had no dysmorphic facial features and was diagnosed postmortem with Noonan syndrome by genomic DNA sequence analysis as he had a heterozygous mutation for G503R in the PTPN11 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion evidence source_evidence_literature provenance.
- assertion SIO_000772 24754368 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.