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- source_evidence_literature type ECO_0000212 NP373484.RAOL45tLANrhOnHIr5HOaTQbxq21zWKMW46elxlOm9H28130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP373484.RAOL45tLANrhOnHIr5HOaTQbxq21zWKMW46elxlOm9H28130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP373484.RAOL45tLANrhOnHIr5HOaTQbxq21zWKMW46elxlOm9H28130_provenance.
- befree-20150227 importedOn "2015-02-27" NP373484.RAOL45tLANrhOnHIr5HOaTQbxq21zWKMW46elxlOm9H28130_provenance.
- NP373484.RAOL45tLANrhOnHIr5HOaTQbxq21zWKMW46elxlOm9H28130_assertion wasGeneratedBy ECO_0000203 NP373484.RAOL45tLANrhOnHIr5HOaTQbxq21zWKMW46elxlOm9H28130_provenance.
- NP373484.RAOL45tLANrhOnHIr5HOaTQbxq21zWKMW46elxlOm9H28130_assertion wasDerivedFrom befree-20150227 NP373484.RAOL45tLANrhOnHIr5HOaTQbxq21zWKMW46elxlOm9H28130_provenance.
- NP373484.RAOL45tLANrhOnHIr5HOaTQbxq21zWKMW46elxlOm9H28130_assertion SIO_000772 19568270 NP373484.RAOL45tLANrhOnHIr5HOaTQbxq21zWKMW46elxlOm9H28130_provenance.
- NP373484.RAOL45tLANrhOnHIr5HOaTQbxq21zWKMW46elxlOm9H28130_assertion evidence source_evidence_literature NP373484.RAOL45tLANrhOnHIr5HOaTQbxq21zWKMW46elxlOm9H28130_provenance.
- NP373484.RAOL45tLANrhOnHIr5HOaTQbxq21zWKMW46elxlOm9H28130_assertion description "[Haploinsufficiency of the ELN gene was shown to be responsible for supravalvular aortic stenosis and generalized arteriopathy, whereas LIMK1, CLIP2, GTF2IRD1 and GTF2I genes were suggested to be linked to the specific cognitive profile and craniofacial features.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP373484.RAOL45tLANrhOnHIr5HOaTQbxq21zWKMW46elxlOm9H28130_provenance.