Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP734253.RAav_dEs5q7hBVhoDp4K37Ku2zPovXKHYzliehz_yQ9j0130_assertion> ?p ?o ?g. }
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- NP734253.RAav_dEs5q7hBVhoDp4K37Ku2zPovXKHYzliehz_yQ9j0130_assertion type Assertion NP734253.RAav_dEs5q7hBVhoDp4K37Ku2zPovXKHYzliehz_yQ9j0130_head.
- NP734253.RAav_dEs5q7hBVhoDp4K37Ku2zPovXKHYzliehz_yQ9j0130_assertion description "[Homozygous chromosomal deletion of a genomic 84 kb, chromosomal fragment which includes the genes CFHR1/CFHR3 is a risk factor for hemolytic uremic syndrome (HUS) at young age and is predominantly associated with the generation of autoantibodies to CFH, leading to a specific type of HUS, called DEAP (deficiency of CFHR and autoantibody positive)-HUS.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP734253.RAav_dEs5q7hBVhoDp4K37Ku2zPovXKHYzliehz_yQ9j0130_provenance.
- NP734253.RAav_dEs5q7hBVhoDp4K37Ku2zPovXKHYzliehz_yQ9j0130_assertion evidence source_evidence_literature NP734253.RAav_dEs5q7hBVhoDp4K37Ku2zPovXKHYzliehz_yQ9j0130_provenance.
- NP734253.RAav_dEs5q7hBVhoDp4K37Ku2zPovXKHYzliehz_yQ9j0130_assertion SIO_000772 19388158 NP734253.RAav_dEs5q7hBVhoDp4K37Ku2zPovXKHYzliehz_yQ9j0130_provenance.
- NP734253.RAav_dEs5q7hBVhoDp4K37Ku2zPovXKHYzliehz_yQ9j0130_assertion wasDerivedFrom befree-2016 NP734253.RAav_dEs5q7hBVhoDp4K37Ku2zPovXKHYzliehz_yQ9j0130_provenance.
- NP734253.RAav_dEs5q7hBVhoDp4K37Ku2zPovXKHYzliehz_yQ9j0130_assertion wasGeneratedBy ECO_0000203 NP734253.RAav_dEs5q7hBVhoDp4K37Ku2zPovXKHYzliehz_yQ9j0130_provenance.