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605479.1
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Subject Details
Country
Lebanon
HPO Terms
Hepatitis; Cholestasis
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Sex
Unknown
Parental Consanguinity
Yes
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_003742.4:c.487T>G
2
Cholestasis, Benign Recurrent Intrahepatic, 2
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References
Jalkh et al. 2019
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