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208085.5
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Subject Details
Country
Lebanon
HPO Terms
Cholestasis
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Sex
Unknown
Parental Consanguinity
Yes
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_018668.5:c.1019dup
2
Arthrogryposis, Renal Dysfunction, and Cholestasis 1
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References
Jalkh et al. 2019
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