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Subject Details
Country
Tunisia
HPO Terms
Hypercholesterolemia; Tendon xanthomatosis; Tuberous xanthoma; Premature coronary artery atherosclerosis
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Sex
Female
Family History
No
Parental Consanguinity
No
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_000527.5:c.1477_1479delinsAGAGACA
2
Hypercholesterolemia, Familial, 1
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References
Slimane et al. 2001
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