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- assertion wasGeneratedBy ECO_0000218 provenance.
- assertion wasDerivedFrom UNIPROT provenance.
- assertion SIO_000772 14566483 provenance.
- assertion evidence source_evidence_curated provenance.
- assertion description "[Different attenuated phenotypes of GM2 gangliosidosis variant B in Japanese patients with HEXA mutations at codon 499, and five novel mutations responsible for infantile acute form.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.