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RGD ID: 13493460
Species: Homo sapiens
RGD Object: Variant
Symbol: CV469072
Name: NC_000019.9:g.(?_11210879)_(11222335_?)dup
Acc ID: DOID:13810
Term: familial hypercholesterolemia
Definition: A familial hyperlipidemia characterized by very high levels of low-density lipoprotein (LDL) and early cardiovascular disease. (DO)
Definition Source(s):
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
QualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
 IAGP 8554872ClinVarClinVar Annotator: match by term: Familial hypercholesterolemia

PMID:16792510, PMID:28492532, PMID:3815525, PMID:6288770
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.