143890.G.1

Country

Lebanon

HPO Terms

Hypercholesterolemia; Abnormal heart valve morphology

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
"Lebanese Allele" NM_000527.4:c.2043C>A34

Remarks

Group of 17 patients with severe Familial Hypercholesterolemia
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