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- source_evidence_literature type ECO_0000212 NP128943.RAGEbcHHS8q4MItXrROnyGt-sPp1FlAY4Ku-YfaPt0_GA130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP128943.RAGEbcHHS8q4MItXrROnyGt-sPp1FlAY4Ku-YfaPt0_GA130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP128943.RAGEbcHHS8q4MItXrROnyGt-sPp1FlAY4Ku-YfaPt0_GA130_provenance.
- NP128943.RAGEbcHHS8q4MItXrROnyGt-sPp1FlAY4Ku-YfaPt0_GA130_assertion description "[Because bicuspid aortic valve (BAV) is a congenital heart defect in patients with Loeys-Dietz syndrome, this study was conducted to investigate whether variants in TGFBR1 or TGFBR2 are responsible for sporadic BAV.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP128943.RAGEbcHHS8q4MItXrROnyGt-sPp1FlAY4Ku-YfaPt0_GA130_provenance.
- NP128943.RAGEbcHHS8q4MItXrROnyGt-sPp1FlAY4Ku-YfaPt0_GA130_assertion evidence source_evidence_literature NP128943.RAGEbcHHS8q4MItXrROnyGt-sPp1FlAY4Ku-YfaPt0_GA130_provenance.
- NP128943.RAGEbcHHS8q4MItXrROnyGt-sPp1FlAY4Ku-YfaPt0_GA130_assertion SIO_000772 18721526 NP128943.RAGEbcHHS8q4MItXrROnyGt-sPp1FlAY4Ku-YfaPt0_GA130_provenance.
- NP128943.RAGEbcHHS8q4MItXrROnyGt-sPp1FlAY4Ku-YfaPt0_GA130_assertion wasDerivedFrom gad-20150221 NP128943.RAGEbcHHS8q4MItXrROnyGt-sPp1FlAY4Ku-YfaPt0_GA130_provenance.
- NP128943.RAGEbcHHS8q4MItXrROnyGt-sPp1FlAY4Ku-YfaPt0_GA130_assertion wasGeneratedBy ECO_0000203 NP128943.RAGEbcHHS8q4MItXrROnyGt-sPp1FlAY4Ku-YfaPt0_GA130_provenance.
- gad-20150221 importedOn "2015-02-21" NP128943.RAGEbcHHS8q4MItXrROnyGt-sPp1FlAY4Ku-YfaPt0_GA130_provenance.