Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP309423.RAeXiVsT4-JoJksV-0wPRLiNXo_Aq3olVJIis0-SUgyZ4#assertion> ?p ?o ?g. }
Showing items 1 to 5 of
5
with 100 items per page.
- assertion wasGeneratedBy ECO_0000203 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion SIO_000772 9359047 provenance.
- assertion evidence source_evidence_literature provenance.
- assertion description "[Homozygosity for EDN3 mutations has been previously shown to cause the Shah-Waardenburg syndrome, a combination of HSCR with features of the Waardenburg syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.