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- assertion wasGeneratedBy ECO_0000203 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion SIO_000772 11857617 provenance.
- assertion evidence source_evidence_literature provenance.
- assertion description "[Direct SPINK5 mutation analysis in families at risk for NS represents the first early, rapid and reliable method for prenatal diagnosis of this life threatening form of ichthyosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.