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- source_evidence_literature type ECO_0000212 NP541194.RA1ZYwOn_1Qhsd4EjxnKL6I3Uy-qZZqGurRfQYqoaQwBg130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP541194.RA1ZYwOn_1Qhsd4EjxnKL6I3Uy-qZZqGurRfQYqoaQwBg130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP541194.RA1ZYwOn_1Qhsd4EjxnKL6I3Uy-qZZqGurRfQYqoaQwBg130_provenance.
- NP541194.RA1ZYwOn_1Qhsd4EjxnKL6I3Uy-qZZqGurRfQYqoaQwBg130_assertion description "[GLUT10 deficiency is associated with upregulation of the TGFbeta pathway in the arterial wall, a finding also observed in Loeys-Dietz syndrome, in which aortic aneurysms associate with arterial tortuosity.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP541194.RA1ZYwOn_1Qhsd4EjxnKL6I3Uy-qZZqGurRfQYqoaQwBg130_provenance.
- NP541194.RA1ZYwOn_1Qhsd4EjxnKL6I3Uy-qZZqGurRfQYqoaQwBg130_assertion evidence source_evidence_literature NP541194.RA1ZYwOn_1Qhsd4EjxnKL6I3Uy-qZZqGurRfQYqoaQwBg130_provenance.
- NP541194.RA1ZYwOn_1Qhsd4EjxnKL6I3Uy-qZZqGurRfQYqoaQwBg130_assertion SIO_000772 16550171 NP541194.RA1ZYwOn_1Qhsd4EjxnKL6I3Uy-qZZqGurRfQYqoaQwBg130_provenance.
- NP541194.RA1ZYwOn_1Qhsd4EjxnKL6I3Uy-qZZqGurRfQYqoaQwBg130_assertion wasDerivedFrom befree-2016 NP541194.RA1ZYwOn_1Qhsd4EjxnKL6I3Uy-qZZqGurRfQYqoaQwBg130_provenance.
- NP541194.RA1ZYwOn_1Qhsd4EjxnKL6I3Uy-qZZqGurRfQYqoaQwBg130_assertion wasGeneratedBy ECO_0000203 NP541194.RA1ZYwOn_1Qhsd4EjxnKL6I3Uy-qZZqGurRfQYqoaQwBg130_provenance.
- befree-2016 importedOn "2016-02-19" NP541194.RA1ZYwOn_1Qhsd4EjxnKL6I3Uy-qZZqGurRfQYqoaQwBg130_provenance.