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177000.3
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Subject Details
Country
Syria
HPO Terms
Hepatosplenomegaly; Jaundice; Increased erythrocyte protoporphyrin concentration
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Sex
Male
Family History
No
Parental Consanguinity
Yes
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_001012515.3:c.690T>G
2
Protoporphyria, Erythropoietic, 1
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References
Kadara et al. 2017
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