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- source_evidence_literature type ECO_0000212 NP993086.RAKicWpxzArKeLSkssCPWNx7j7_uJitmIf14oA88IcehM130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP993086.RAKicWpxzArKeLSkssCPWNx7j7_uJitmIf14oA88IcehM130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP993086.RAKicWpxzArKeLSkssCPWNx7j7_uJitmIf14oA88IcehM130_provenance.
- NP993086.RAKicWpxzArKeLSkssCPWNx7j7_uJitmIf14oA88IcehM130_assertion description "[Arterial tortuosity and aneurysm in a case of Loeys-Dietz syndrome type IB with a mutation p.R537P in the TGFBR2 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP993086.RAKicWpxzArKeLSkssCPWNx7j7_uJitmIf14oA88IcehM130_provenance.
- NP993086.RAKicWpxzArKeLSkssCPWNx7j7_uJitmIf14oA88IcehM130_assertion evidence source_evidence_literature NP993086.RAKicWpxzArKeLSkssCPWNx7j7_uJitmIf14oA88IcehM130_provenance.
- NP993086.RAKicWpxzArKeLSkssCPWNx7j7_uJitmIf14oA88IcehM130_assertion SIO_000772 22734312 NP993086.RAKicWpxzArKeLSkssCPWNx7j7_uJitmIf14oA88IcehM130_provenance.
- NP993086.RAKicWpxzArKeLSkssCPWNx7j7_uJitmIf14oA88IcehM130_assertion wasDerivedFrom befree-2016 NP993086.RAKicWpxzArKeLSkssCPWNx7j7_uJitmIf14oA88IcehM130_provenance.
- NP993086.RAKicWpxzArKeLSkssCPWNx7j7_uJitmIf14oA88IcehM130_assertion wasGeneratedBy ECO_0000203 NP993086.RAKicWpxzArKeLSkssCPWNx7j7_uJitmIf14oA88IcehM130_provenance.
- befree-2016 importedOn "2016-02-19" NP993086.RAKicWpxzArKeLSkssCPWNx7j7_uJitmIf14oA88IcehM130_provenance.