Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP53926.RA5W9YUxuUqR8b-sCdh4PzoegDTuW-P8ucERG-PJEBPog130_assertion> ?p ?o ?g. }
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- NP53926.RA5W9YUxuUqR8b-sCdh4PzoegDTuW-P8ucERG-PJEBPog130_assertion type Assertion NP53926.RA5W9YUxuUqR8b-sCdh4PzoegDTuW-P8ucERG-PJEBPog130_head.
- NP53926.RA5W9YUxuUqR8b-sCdh4PzoegDTuW-P8ucERG-PJEBPog130_assertion description "[Novel mutations in ENG and ACVRL1 identified in a series of 200 individuals undergoing clinical genetic testing for hereditary hemorrhagic telangiectasia (HHT): correlation of genotype with phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP53926.RA5W9YUxuUqR8b-sCdh4PzoegDTuW-P8ucERG-PJEBPog130_provenance.
- NP53926.RA5W9YUxuUqR8b-sCdh4PzoegDTuW-P8ucERG-PJEBPog130_assertion evidence source_evidence_literature NP53926.RA5W9YUxuUqR8b-sCdh4PzoegDTuW-P8ucERG-PJEBPog130_provenance.
- NP53926.RA5W9YUxuUqR8b-sCdh4PzoegDTuW-P8ucERG-PJEBPog130_assertion SIO_000772 16752392 NP53926.RA5W9YUxuUqR8b-sCdh4PzoegDTuW-P8ucERG-PJEBPog130_provenance.
- NP53926.RA5W9YUxuUqR8b-sCdh4PzoegDTuW-P8ucERG-PJEBPog130_assertion wasDerivedFrom gad-20150221 NP53926.RA5W9YUxuUqR8b-sCdh4PzoegDTuW-P8ucERG-PJEBPog130_provenance.
- NP53926.RA5W9YUxuUqR8b-sCdh4PzoegDTuW-P8ucERG-PJEBPog130_assertion wasGeneratedBy ECO_0000203 NP53926.RA5W9YUxuUqR8b-sCdh4PzoegDTuW-P8ucERG-PJEBPog130_provenance.