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- source_evidence_literature type ECO_0000212 NP689163.RAHrDDjQgX_x44T_SpfJInyMrfgJhHFGEhjTcNhJtztBA130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP689163.RAHrDDjQgX_x44T_SpfJInyMrfgJhHFGEhjTcNhJtztBA130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP689163.RAHrDDjQgX_x44T_SpfJInyMrfgJhHFGEhjTcNhJtztBA130_provenance.
- NP689163.RAHrDDjQgX_x44T_SpfJInyMrfgJhHFGEhjTcNhJtztBA130_assertion description "[Mutations in the genes encoding transforming growth factor-beta receptor types I and II (TGFBR1 and TGFBR2, respectively) are commonly identified in patients with Loeys-Dietz syndrome, as well as some patients with Marfan's syndrome or familial thoracic aortic aneurysms and dissections.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP689163.RAHrDDjQgX_x44T_SpfJInyMrfgJhHFGEhjTcNhJtztBA130_provenance.
- NP689163.RAHrDDjQgX_x44T_SpfJInyMrfgJhHFGEhjTcNhJtztBA130_assertion evidence source_evidence_literature NP689163.RAHrDDjQgX_x44T_SpfJInyMrfgJhHFGEhjTcNhJtztBA130_provenance.
- NP689163.RAHrDDjQgX_x44T_SpfJInyMrfgJhHFGEhjTcNhJtztBA130_assertion SIO_000772 18721526 NP689163.RAHrDDjQgX_x44T_SpfJInyMrfgJhHFGEhjTcNhJtztBA130_provenance.
- NP689163.RAHrDDjQgX_x44T_SpfJInyMrfgJhHFGEhjTcNhJtztBA130_assertion wasDerivedFrom befree-2016 NP689163.RAHrDDjQgX_x44T_SpfJInyMrfgJhHFGEhjTcNhJtztBA130_provenance.
- NP689163.RAHrDDjQgX_x44T_SpfJInyMrfgJhHFGEhjTcNhJtztBA130_assertion wasGeneratedBy ECO_0000203 NP689163.RAHrDDjQgX_x44T_SpfJInyMrfgJhHFGEhjTcNhJtztBA130_provenance.
- befree-2016 importedOn "2016-02-19" NP689163.RAHrDDjQgX_x44T_SpfJInyMrfgJhHFGEhjTcNhJtztBA130_provenance.