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143890.G.1
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Subject Details
Country
Lebanon
HPO Terms
Hypercholesterolemia; Abnormal heart valve morphology
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Sex
Unknown
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
"Lebanese Allele" NM_000527.4:c.2043C>A
34
Hypercholesterolemia, Familial, 1
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Remarks
Group of 17 patients with severe Familial Hypercholesterolemia
References
Fahed et al, 2017
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