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308050.1
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Subject Details
Country
Lebanon
HPO Terms
Verruciform xanthoma
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Sex
Female
Family History
No
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_015922.3:c.314C>T
Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects
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References
Kurban et al, 2010b
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