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See Report
Preferred Variant Title
Classification
Condition
Published Date
Version
Criteria Specification
Gene
View NM_000018.4(ACADVL):c.1220G>C (p.Gly407Ala)
Likely Pathogenic
very long chain acyl-CoA dehydrogenase deficiency2023-02-13
1.0
-ACADVL
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