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- assertion description "[PHOX2A mutation analysis revealed a novel nonsense mutation in CFEOM2 (congenital fibrosis of extraocular muscles type 2)]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion evidence source_evidence_literature provenance.
- assertion SIO_000772 14597037 provenance.
- assertion wasDerivedFrom LHGDN provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.