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Subject Details
Country
Lebanon
HPO Terms
Abnormality of the liver; Dysarthria; Dystonia; Increased urinary copper concentration
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Sex
Female
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_000053.3:c.3809A>G
2
Wilson Disease
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References
Barada et al. 2017
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