Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP365240.RAsJUHsozK16cChe-QnZUzS4Vnl9XOcCDtNZhBC678VOM130_assertion> ?p ?o ?g. }
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- NP365240.RAsJUHsozK16cChe-QnZUzS4Vnl9XOcCDtNZhBC678VOM130_assertion type Assertion NP365240.RAsJUHsozK16cChe-QnZUzS4Vnl9XOcCDtNZhBC678VOM130_head.
- NP365240.RAsJUHsozK16cChe-QnZUzS4Vnl9XOcCDtNZhBC678VOM130_assertion wasGeneratedBy ECO_0000203 NP365240.RAsJUHsozK16cChe-QnZUzS4Vnl9XOcCDtNZhBC678VOM130_provenance.
- NP365240.RAsJUHsozK16cChe-QnZUzS4Vnl9XOcCDtNZhBC678VOM130_assertion wasDerivedFrom befree-20150227 NP365240.RAsJUHsozK16cChe-QnZUzS4Vnl9XOcCDtNZhBC678VOM130_provenance.
- NP365240.RAsJUHsozK16cChe-QnZUzS4Vnl9XOcCDtNZhBC678VOM130_assertion SIO_000772 9359047 NP365240.RAsJUHsozK16cChe-QnZUzS4Vnl9XOcCDtNZhBC678VOM130_provenance.
- NP365240.RAsJUHsozK16cChe-QnZUzS4Vnl9XOcCDtNZhBC678VOM130_assertion evidence source_evidence_literature NP365240.RAsJUHsozK16cChe-QnZUzS4Vnl9XOcCDtNZhBC678VOM130_provenance.
- NP365240.RAsJUHsozK16cChe-QnZUzS4Vnl9XOcCDtNZhBC678VOM130_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." NP365240.RAsJUHsozK16cChe-QnZUzS4Vnl9XOcCDtNZhBC678VOM130_provenance.