Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP395704.RAHPfcyFhI0mU7MmUp5E5yFjlYo6sEQgf4aaSDflamcTk130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP395704.RAHPfcyFhI0mU7MmUp5E5yFjlYo6sEQgf4aaSDflamcTk130_assertion type Assertion NP395704.RAHPfcyFhI0mU7MmUp5E5yFjlYo6sEQgf4aaSDflamcTk130_head.
- NP395704.RAHPfcyFhI0mU7MmUp5E5yFjlYo6sEQgf4aaSDflamcTk130_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." NP395704.RAHPfcyFhI0mU7MmUp5E5yFjlYo6sEQgf4aaSDflamcTk130_provenance.
- NP395704.RAHPfcyFhI0mU7MmUp5E5yFjlYo6sEQgf4aaSDflamcTk130_assertion evidence source_evidence_literature NP395704.RAHPfcyFhI0mU7MmUp5E5yFjlYo6sEQgf4aaSDflamcTk130_provenance.
- NP395704.RAHPfcyFhI0mU7MmUp5E5yFjlYo6sEQgf4aaSDflamcTk130_assertion SIO_000772 23552953 NP395704.RAHPfcyFhI0mU7MmUp5E5yFjlYo6sEQgf4aaSDflamcTk130_provenance.
- NP395704.RAHPfcyFhI0mU7MmUp5E5yFjlYo6sEQgf4aaSDflamcTk130_assertion wasDerivedFrom befree-20150227 NP395704.RAHPfcyFhI0mU7MmUp5E5yFjlYo6sEQgf4aaSDflamcTk130_provenance.
- NP395704.RAHPfcyFhI0mU7MmUp5E5yFjlYo6sEQgf4aaSDflamcTk130_assertion wasGeneratedBy ECO_0000203 NP395704.RAHPfcyFhI0mU7MmUp5E5yFjlYo6sEQgf4aaSDflamcTk130_provenance.