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- assertion wasGeneratedBy ECO_0000203 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion SIO_000772 12577200 provenance.
- assertion evidence source_evidence_literature provenance.
- assertion description "[We recently identified a mutation in the I-kappa B kinase associated protein (IKBKAP) gene as the major cause of familial dysautonomia (FD), a recessive sensory and autonomic neuropathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.