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See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
---|---|---|---|---|---|---|---|
View | NM_000527.4(LDLR):c.313+1G>A | Pathogenic | hypercholesterolemia, familial | 2021-06-24 | 1.0 | - | LDLR |
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