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- source_evidence_literature type ECO_0000212 NP751088.RAFjwWs6jo2htRSfJj12z5_GuMECXpN7-2NsS9ME3iELY130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP751088.RAFjwWs6jo2htRSfJj12z5_GuMECXpN7-2NsS9ME3iELY130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP751088.RAFjwWs6jo2htRSfJj12z5_GuMECXpN7-2NsS9ME3iELY130_provenance.
- NP751088.RAFjwWs6jo2htRSfJj12z5_GuMECXpN7-2NsS9ME3iELY130_assertion description "[Germline mutations in RECQL4 and p53 lead to cancer predisposition syndromes, Rothmund-Thomson syndrome (RTS) and Li-Fraumeni syndrome (LFS), respectively.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP751088.RAFjwWs6jo2htRSfJj12z5_GuMECXpN7-2NsS9ME3iELY130_provenance.
- NP751088.RAFjwWs6jo2htRSfJj12z5_GuMECXpN7-2NsS9ME3iELY130_assertion evidence source_evidence_literature NP751088.RAFjwWs6jo2htRSfJj12z5_GuMECXpN7-2NsS9ME3iELY130_provenance.
- NP751088.RAFjwWs6jo2htRSfJj12z5_GuMECXpN7-2NsS9ME3iELY130_assertion SIO_000772 24067899 NP751088.RAFjwWs6jo2htRSfJj12z5_GuMECXpN7-2NsS9ME3iELY130_provenance.
- NP751088.RAFjwWs6jo2htRSfJj12z5_GuMECXpN7-2NsS9ME3iELY130_assertion wasDerivedFrom befree-20150227 NP751088.RAFjwWs6jo2htRSfJj12z5_GuMECXpN7-2NsS9ME3iELY130_provenance.
- NP751088.RAFjwWs6jo2htRSfJj12z5_GuMECXpN7-2NsS9ME3iELY130_assertion wasGeneratedBy ECO_0000203 NP751088.RAFjwWs6jo2htRSfJj12z5_GuMECXpN7-2NsS9ME3iELY130_provenance.
- befree-20150227 importedOn "2015-02-27" NP751088.RAFjwWs6jo2htRSfJj12z5_GuMECXpN7-2NsS9ME3iELY130_provenance.