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Familial hypercholesterolemia
Gene: LDLR
Familial hypercholesterolemia
Gene: PCSK9
Familial bicuspid aortic valve
Gene: NOTCH1
Familial aneurysm and thoracic aortic dissection
Gene: ACTA2
Essential tremor
Gene: DRD3
Ellis Van Creveld syndrome
Gene: EVC2_MLPA
Emery-Dreifuss muscular dystrophy, type 1
Gene: EMD
Emery-Dreifuss muscular dystrophy, type 6
Gene: FHL1
Ellis Van Creveld syndrome
Gene: EVC
Ellis Van Creveld syndrome
Gene: EVC2
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