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- source_evidence_literature type ECO_0000212 NP1179113.RA_PPznU29RzEF6UmmFemaUorjQxEU66XSX2DrYQdqr8o130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1179113.RA_PPznU29RzEF6UmmFemaUorjQxEU66XSX2DrYQdqr8o130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1179113.RA_PPznU29RzEF6UmmFemaUorjQxEU66XSX2DrYQdqr8o130_provenance.
- NP1179113.RA_PPznU29RzEF6UmmFemaUorjQxEU66XSX2DrYQdqr8o130_assertion description "[In this study, patients suspected of having a clinical diagnosis of Marfan Syndrome (MFS), Loeys-Dietz Syndrome (LDS) and Thoracic Aortic Aneurysms and Dissections (TAAD) were referred for genetic testing and examined for mutations in the FBN1, TGF?R1, TGF?R2 and ACTA2 genes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1179113.RA_PPznU29RzEF6UmmFemaUorjQxEU66XSX2DrYQdqr8o130_provenance.
- NP1179113.RA_PPznU29RzEF6UmmFemaUorjQxEU66XSX2DrYQdqr8o130_assertion evidence source_evidence_literature NP1179113.RA_PPznU29RzEF6UmmFemaUorjQxEU66XSX2DrYQdqr8o130_provenance.
- NP1179113.RA_PPznU29RzEF6UmmFemaUorjQxEU66XSX2DrYQdqr8o130_assertion SIO_000772 24793577 NP1179113.RA_PPznU29RzEF6UmmFemaUorjQxEU66XSX2DrYQdqr8o130_provenance.
- NP1179113.RA_PPznU29RzEF6UmmFemaUorjQxEU66XSX2DrYQdqr8o130_assertion wasDerivedFrom befree-2016 NP1179113.RA_PPznU29RzEF6UmmFemaUorjQxEU66XSX2DrYQdqr8o130_provenance.
- NP1179113.RA_PPznU29RzEF6UmmFemaUorjQxEU66XSX2DrYQdqr8o130_assertion wasGeneratedBy ECO_0000203 NP1179113.RA_PPznU29RzEF6UmmFemaUorjQxEU66XSX2DrYQdqr8o130_provenance.
- befree-2016 importedOn "2016-02-19" NP1179113.RA_PPznU29RzEF6UmmFemaUorjQxEU66XSX2DrYQdqr8o130_provenance.