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613812.1
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Subject Details
Country
Saudi Arabia
HPO Terms
Cholestasis; Cirrhosis
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Sex
Male
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_004820.5:c.1057G>T
2
Bile Acid Synthesis Defect, Congenital, 3
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References
Monies et al. 2017
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