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243300.1.1
Home
Subject Details
Country
United Arab Emirates
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Family History
Yes
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_001374385.1:c.379C>G
2
Cholestasis, Benign Recurrent Intrahepatic, 1
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References
Al-Shamsi et al. 2016
Related Subjects
Subject Id
Country
HPO Terms
Sex
Family History
Parental Consanguinity
Remarks
243300.1.2
United Arab Emirates
Yes
Sibling of 243300.1.1
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