Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP896480.RA2ra5oxPHv1i8sOo3koK5JAaQmzbOdMluScTSFdfEfSc130_assertion> ?p ?o ?g. }
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- NP896480.RA2ra5oxPHv1i8sOo3koK5JAaQmzbOdMluScTSFdfEfSc130_assertion type Assertion NP896480.RA2ra5oxPHv1i8sOo3koK5JAaQmzbOdMluScTSFdfEfSc130_head.
- NP896480.RA2ra5oxPHv1i8sOo3koK5JAaQmzbOdMluScTSFdfEfSc130_assertion description "[Novel EDNRB mutations have been detected in non-syndromic HD patients with heterozygous forms, and homozygous mutations of the EDNRB or the EDN3 genes have been reported in HD patients associated with type 2 Waardenburg syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP896480.RA2ra5oxPHv1i8sOo3koK5JAaQmzbOdMluScTSFdfEfSc130_provenance.
- NP896480.RA2ra5oxPHv1i8sOo3koK5JAaQmzbOdMluScTSFdfEfSc130_assertion evidence source_evidence_literature NP896480.RA2ra5oxPHv1i8sOo3koK5JAaQmzbOdMluScTSFdfEfSc130_provenance.
- NP896480.RA2ra5oxPHv1i8sOo3koK5JAaQmzbOdMluScTSFdfEfSc130_assertion SIO_000772 9035203 NP896480.RA2ra5oxPHv1i8sOo3koK5JAaQmzbOdMluScTSFdfEfSc130_provenance.
- NP896480.RA2ra5oxPHv1i8sOo3koK5JAaQmzbOdMluScTSFdfEfSc130_assertion wasDerivedFrom befree-20140225 NP896480.RA2ra5oxPHv1i8sOo3koK5JAaQmzbOdMluScTSFdfEfSc130_provenance.
- NP896480.RA2ra5oxPHv1i8sOo3koK5JAaQmzbOdMluScTSFdfEfSc130_assertion wasGeneratedBy ECO_0000203 NP896480.RA2ra5oxPHv1i8sOo3koK5JAaQmzbOdMluScTSFdfEfSc130_provenance.