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- assertion wasGeneratedBy ECO_0000203 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion SIO_000772 19251738 provenance.
- assertion evidence source_evidence_literature provenance.
- assertion description "[De novo mutation of the CHD7 gene is a major cause of CHARGE syndrome, a genetic disease characterized by a complex constellation of birth defects (Coloboma of the eye, Heart defects, Atresia of the choanae, severe Retardation of growth and development, Genital abnormalities, and Ear abnormalities).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.