Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP447378.RA1pFBURJDmlsLbQa6CHcf_xF0VR6mQj9r7Z2tSKyXNdg130_assertion> ?p ?o ?g. }
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- NP447378.RA1pFBURJDmlsLbQa6CHcf_xF0VR6mQj9r7Z2tSKyXNdg130_assertion type Assertion NP447378.RA1pFBURJDmlsLbQa6CHcf_xF0VR6mQj9r7Z2tSKyXNdg130_head.
- NP447378.RA1pFBURJDmlsLbQa6CHcf_xF0VR6mQj9r7Z2tSKyXNdg130_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." NP447378.RA1pFBURJDmlsLbQa6CHcf_xF0VR6mQj9r7Z2tSKyXNdg130_provenance.
- NP447378.RA1pFBURJDmlsLbQa6CHcf_xF0VR6mQj9r7Z2tSKyXNdg130_assertion evidence source_evidence_literature NP447378.RA1pFBURJDmlsLbQa6CHcf_xF0VR6mQj9r7Z2tSKyXNdg130_provenance.
- NP447378.RA1pFBURJDmlsLbQa6CHcf_xF0VR6mQj9r7Z2tSKyXNdg130_assertion SIO_000772 19388158 NP447378.RA1pFBURJDmlsLbQa6CHcf_xF0VR6mQj9r7Z2tSKyXNdg130_provenance.
- NP447378.RA1pFBURJDmlsLbQa6CHcf_xF0VR6mQj9r7Z2tSKyXNdg130_assertion wasDerivedFrom befree-20150227 NP447378.RA1pFBURJDmlsLbQa6CHcf_xF0VR6mQj9r7Z2tSKyXNdg130_provenance.
- NP447378.RA1pFBURJDmlsLbQa6CHcf_xF0VR6mQj9r7Z2tSKyXNdg130_assertion wasGeneratedBy ECO_0000203 NP447378.RA1pFBURJDmlsLbQa6CHcf_xF0VR6mQj9r7Z2tSKyXNdg130_provenance.