Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP575365.RA7LEnww9vjveKvE9MHvx-KM935fwt21fGBOzWfVTaBvE130_assertion> ?p ?o ?g. }
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- NP575365.RA7LEnww9vjveKvE9MHvx-KM935fwt21fGBOzWfVTaBvE130_assertion type Assertion NP575365.RA7LEnww9vjveKvE9MHvx-KM935fwt21fGBOzWfVTaBvE130_head.
- NP575365.RA7LEnww9vjveKvE9MHvx-KM935fwt21fGBOzWfVTaBvE130_assertion description "[By WES and filtering with a mining tool, a novel FBN1 missense variant was found in patient 1 and his mother, who both showed clinical features of Marfan syndrome by thorough anthropometric assessment, and a novel EYA1 missense variant as a probable cause of the renal malformation in the patient.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP575365.RA7LEnww9vjveKvE9MHvx-KM935fwt21fGBOzWfVTaBvE130_provenance.
- NP575365.RA7LEnww9vjveKvE9MHvx-KM935fwt21fGBOzWfVTaBvE130_assertion evidence source_evidence_literature NP575365.RA7LEnww9vjveKvE9MHvx-KM935fwt21fGBOzWfVTaBvE130_provenance.
- NP575365.RA7LEnww9vjveKvE9MHvx-KM935fwt21fGBOzWfVTaBvE130_assertion SIO_000772 23552953 NP575365.RA7LEnww9vjveKvE9MHvx-KM935fwt21fGBOzWfVTaBvE130_provenance.
- NP575365.RA7LEnww9vjveKvE9MHvx-KM935fwt21fGBOzWfVTaBvE130_assertion wasDerivedFrom befree-20140225 NP575365.RA7LEnww9vjveKvE9MHvx-KM935fwt21fGBOzWfVTaBvE130_provenance.
- NP575365.RA7LEnww9vjveKvE9MHvx-KM935fwt21fGBOzWfVTaBvE130_assertion wasGeneratedBy ECO_0000203 NP575365.RA7LEnww9vjveKvE9MHvx-KM935fwt21fGBOzWfVTaBvE130_provenance.