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See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
---|---|---|---|---|---|---|---|
View | NM_000018.4(ACADVL):c.1141_1143del (p.Glu381del) | Pathogenic | very long chain acyl-CoA dehydrogenase deficiency | 2022-08-09 | 1.0 | - | ACADVL |
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