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- assertion wasGeneratedBy ECO_0000203 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion SIO_000772 16543359 provenance.
- assertion evidence source_evidence_literature provenance.
- assertion description "[A previously unreported case with severe bilateral microphthalmia and oesophageal atresia has a de novo missense mutation, R74P, that alters a highly evolutionarily conserved residue within the high mobility group domain, which is critical for DNA-binding of SOX2.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.