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263700.1
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Subject Details
Country
Lebanon
HPO Terms
Fragile skin; Severe photosensitivity; Red urine; Facial papilloma; Microcytic anemia; Hyperbilirubinemia; Abnormal circulating porphyrin concentration
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Sex
Male
Parental Consanguinity
Yes
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_001324036.2:c.139T>C
2
Porphyria, Congenital Erythropoietic
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Remarks
Family history of beta-thalassemia
References
Maakaron et al. 2012
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