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247100.9
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Subject Details
Country
Lebanon
HPO Terms
Papule; Skin plaque; Lichenoid skin lesion; Hoarse voice; Protuberant abdomen
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Sex
Female
Family History
No
Parental Consanguinity
Yes
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_004425.4:c.389C>T
2
Lipoid Proteinosis of Urbach and Wiethe
NM_152468.5:c.917A>T
1
Epidermodysplasia Verruciformis, Susceptibility to, 2
NM_152468.5:c.1024G>T
1
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References
O'Blenes et al. 2015
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