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235555.1
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Subject Details
Country
United Arab Emirates
HPO Terms
Abnormal serum bile acid concentration
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Sex
Unknown
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_005989.4:c.781C>T
2
Bile Acid Synthesis Defect, Congenital, 2
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References
Al-Shamsi et al. 2014
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