Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP388525.RAO8ivG4wKrA9VJMfwo4UCT-f1ddkkULXBPKwUsWSK4-g130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP388525.RAO8ivG4wKrA9VJMfwo4UCT-f1ddkkULXBPKwUsWSK4-g130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP388525.RAO8ivG4wKrA9VJMfwo4UCT-f1ddkkULXBPKwUsWSK4-g130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP388525.RAO8ivG4wKrA9VJMfwo4UCT-f1ddkkULXBPKwUsWSK4-g130_provenance.
- NP388525.RAO8ivG4wKrA9VJMfwo4UCT-f1ddkkULXBPKwUsWSK4-g130_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." NP388525.RAO8ivG4wKrA9VJMfwo4UCT-f1ddkkULXBPKwUsWSK4-g130_provenance.
- NP388525.RAO8ivG4wKrA9VJMfwo4UCT-f1ddkkULXBPKwUsWSK4-g130_assertion evidence source_evidence_literature NP388525.RAO8ivG4wKrA9VJMfwo4UCT-f1ddkkULXBPKwUsWSK4-g130_provenance.
- NP388525.RAO8ivG4wKrA9VJMfwo4UCT-f1ddkkULXBPKwUsWSK4-g130_assertion SIO_000772 23552953 NP388525.RAO8ivG4wKrA9VJMfwo4UCT-f1ddkkULXBPKwUsWSK4-g130_provenance.
- NP388525.RAO8ivG4wKrA9VJMfwo4UCT-f1ddkkULXBPKwUsWSK4-g130_assertion wasDerivedFrom befree-20150227 NP388525.RAO8ivG4wKrA9VJMfwo4UCT-f1ddkkULXBPKwUsWSK4-g130_provenance.
- NP388525.RAO8ivG4wKrA9VJMfwo4UCT-f1ddkkULXBPKwUsWSK4-g130_assertion wasGeneratedBy ECO_0000203 NP388525.RAO8ivG4wKrA9VJMfwo4UCT-f1ddkkULXBPKwUsWSK4-g130_provenance.
- befree-20150227 importedOn "2015-02-27" NP388525.RAO8ivG4wKrA9VJMfwo4UCT-f1ddkkULXBPKwUsWSK4-g130_provenance.