Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP365903.RA-nBk73eH_VB3BSI8O6y3_1a-F5tNt5S4OGt9Xl-AB-M130_assertion> ?p ?o ?g. }
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- NP365903.RA-nBk73eH_VB3BSI8O6y3_1a-F5tNt5S4OGt9Xl-AB-M130_assertion type Assertion NP365903.RA-nBk73eH_VB3BSI8O6y3_1a-F5tNt5S4OGt9Xl-AB-M130_head.
- NP365903.RA-nBk73eH_VB3BSI8O6y3_1a-F5tNt5S4OGt9Xl-AB-M130_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." NP365903.RA-nBk73eH_VB3BSI8O6y3_1a-F5tNt5S4OGt9Xl-AB-M130_provenance.
- NP365903.RA-nBk73eH_VB3BSI8O6y3_1a-F5tNt5S4OGt9Xl-AB-M130_assertion evidence source_evidence_literature NP365903.RA-nBk73eH_VB3BSI8O6y3_1a-F5tNt5S4OGt9Xl-AB-M130_provenance.
- NP365903.RA-nBk73eH_VB3BSI8O6y3_1a-F5tNt5S4OGt9Xl-AB-M130_assertion SIO_000772 9035203 NP365903.RA-nBk73eH_VB3BSI8O6y3_1a-F5tNt5S4OGt9Xl-AB-M130_provenance.
- NP365903.RA-nBk73eH_VB3BSI8O6y3_1a-F5tNt5S4OGt9Xl-AB-M130_assertion wasDerivedFrom befree-20150227 NP365903.RA-nBk73eH_VB3BSI8O6y3_1a-F5tNt5S4OGt9Xl-AB-M130_provenance.
- NP365903.RA-nBk73eH_VB3BSI8O6y3_1a-F5tNt5S4OGt9Xl-AB-M130_assertion wasGeneratedBy ECO_0000203 NP365903.RA-nBk73eH_VB3BSI8O6y3_1a-F5tNt5S4OGt9Xl-AB-M130_provenance.