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278760.1
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Subject Details
Country
Egypt
HPO Terms
Failure to thrive; Tetralogy of Fallot; Congenital hepatic fibrosis
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Sex
Male
Family History
Yes
Parental Consanguinity
Yes
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_005236.3:c.909T>G
2
Xeroderma Pigmentosum, Complementation Group F
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References
Shaheen et al. 2019
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