Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP614994.RAY1BzIzTMmYHF3eaeezzhWFAx3vZTqO8EgQ6ZyfFzUHs#assertion> ?p ?o ?g. }
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- assertion description "[Genetic testing revealed a de novo heterozygous mutation (R218W) in KCNJ2 associated with ATS.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion evidence source_evidence_literature provenance.
- assertion SIO_000772 25415519 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.