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- assertion wasGeneratedBy ECO_0000203 provenance.
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- assertion SIO_000772 10416973 provenance.
- assertion evidence source_evidence_literature provenance.
- assertion description "[First-trimester diagnosis of infantile neuronal ceroid lipofuscinosis (INCL) using PPT enzyme assay and CLN1 mutation analysis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.