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- assertion wasGeneratedBy ECO_0000203 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion SIO_000772 19568270 provenance.
- assertion evidence source_evidence_literature provenance.
- 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." provenance.