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143890.9
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Subject Details
Country
Lebanon
HPO Terms
Hyperlipidemia
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Sex
Unknown
Family History
Yes
Parental Consanguinity
Yes
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_000527.4:c.980dup
2
NA
Hypercholesterolemia, Familial, 1
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Remarks
Patient J1 in publication
References
Fahed et al., 2011
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