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- source_evidence_literature type ECO_0000212 NP396226.RAXtmL-gujCy_0f4L24MQWpGLnd9VDHGI5RIrjsDjTguo130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP396226.RAXtmL-gujCy_0f4L24MQWpGLnd9VDHGI5RIrjsDjTguo130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP396226.RAXtmL-gujCy_0f4L24MQWpGLnd9VDHGI5RIrjsDjTguo130_provenance.
- NP396226.RAXtmL-gujCy_0f4L24MQWpGLnd9VDHGI5RIrjsDjTguo130_assertion description "[An Arg345Trp (R345W) mutation in the last canonical calcium-binding epidermal growth factor (cbEGF) domain of fibulin-3 (F3) causes the rare macular dystrophy, Malattia Leventinese (ML).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP396226.RAXtmL-gujCy_0f4L24MQWpGLnd9VDHGI5RIrjsDjTguo130_provenance.
- NP396226.RAXtmL-gujCy_0f4L24MQWpGLnd9VDHGI5RIrjsDjTguo130_assertion evidence source_evidence_literature NP396226.RAXtmL-gujCy_0f4L24MQWpGLnd9VDHGI5RIrjsDjTguo130_provenance.
- NP396226.RAXtmL-gujCy_0f4L24MQWpGLnd9VDHGI5RIrjsDjTguo130_assertion SIO_000772 25481286 NP396226.RAXtmL-gujCy_0f4L24MQWpGLnd9VDHGI5RIrjsDjTguo130_provenance.
- NP396226.RAXtmL-gujCy_0f4L24MQWpGLnd9VDHGI5RIrjsDjTguo130_assertion wasDerivedFrom befree-20150227 NP396226.RAXtmL-gujCy_0f4L24MQWpGLnd9VDHGI5RIrjsDjTguo130_provenance.
- NP396226.RAXtmL-gujCy_0f4L24MQWpGLnd9VDHGI5RIrjsDjTguo130_assertion wasGeneratedBy ECO_0000203 NP396226.RAXtmL-gujCy_0f4L24MQWpGLnd9VDHGI5RIrjsDjTguo130_provenance.
- befree-20150227 importedOn "2015-02-27" NP396226.RAXtmL-gujCy_0f4L24MQWpGLnd9VDHGI5RIrjsDjTguo130_provenance.