Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP660418.RA5W1zH7y5EerqyUn3QT3u1dpwNt0Q302DhBHxHCoYn_E#assertion> ?p ?o ?g. }
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- assertion description "[Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion evidence source_evidence_curated provenance.
- assertion SIO_000772 22158539 provenance.
- assertion wasDerivedFrom CTD_human provenance.
- assertion wasGeneratedBy ECO_0000218 provenance.