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- assertion wasGeneratedBy ECO_0000203 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion SIO_000772 9633819 provenance.
- assertion evidence source_evidence_literature provenance.
- assertion description "[The associated genetic defects characterized revealed compound heterozygosity for a splice defect leading to skipping of exon 8, due to a G-->A transition at position -1 of the exon 8 splice donor site, and a point mutation leading to a Hisl08Pro change (CAT-->CCT) in two patients (siblings) with mild CESD phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.