Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1383352.RAvsVxLwCdEbk6fsDbVc2TLtceQ9KuYVId0mj10jKO7X0130_assertion> ?p ?o ?g. }
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- NP1383352.RAvsVxLwCdEbk6fsDbVc2TLtceQ9KuYVId0mj10jKO7X0130_assertion type Assertion NP1383352.RAvsVxLwCdEbk6fsDbVc2TLtceQ9KuYVId0mj10jKO7X0130_head.
- NP1383352.RAvsVxLwCdEbk6fsDbVc2TLtceQ9KuYVId0mj10jKO7X0130_assertion wasGeneratedBy ECO_0000203 NP1383352.RAvsVxLwCdEbk6fsDbVc2TLtceQ9KuYVId0mj10jKO7X0130_provenance.
- NP1383352.RAvsVxLwCdEbk6fsDbVc2TLtceQ9KuYVId0mj10jKO7X0130_assertion wasDerivedFrom befree-2016 NP1383352.RAvsVxLwCdEbk6fsDbVc2TLtceQ9KuYVId0mj10jKO7X0130_provenance.
- NP1383352.RAvsVxLwCdEbk6fsDbVc2TLtceQ9KuYVId0mj10jKO7X0130_assertion SIO_000772 9359047 NP1383352.RAvsVxLwCdEbk6fsDbVc2TLtceQ9KuYVId0mj10jKO7X0130_provenance.
- NP1383352.RAvsVxLwCdEbk6fsDbVc2TLtceQ9KuYVId0mj10jKO7X0130_assertion evidence source_evidence_literature NP1383352.RAvsVxLwCdEbk6fsDbVc2TLtceQ9KuYVId0mj10jKO7X0130_provenance.
- NP1383352.RAvsVxLwCdEbk6fsDbVc2TLtceQ9KuYVId0mj10jKO7X0130_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." NP1383352.RAvsVxLwCdEbk6fsDbVc2TLtceQ9KuYVId0mj10jKO7X0130_provenance.