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- assertion description "[A 5' splice junction mutation leading to exon deletion in an Ashkenazic Jewish family with phosphofructokinase deficiency (Tarui disease).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion evidence source_evidence_curated provenance.
- assertion SIO_000772 8444874 provenance.
- assertion wasDerivedFrom CTD_human provenance.
- assertion wasGeneratedBy ECO_0000218 provenance.