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277900.37.1
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Subject Details
Country
Lebanon
HPO Terms
Neurodevelopmental delay; Kayser-Fleischer ring; Increased urinary copper concentration
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Sex
Female
Family History
Yes
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
Related Subjects
Subject Id
Country
HPO Terms
Sex
Family History
Parental Consanguinity
Remarks
277900.37.2
Lebanon
Neurodevelopmental delay; Kayser-Fleischer ring; Increased urinary copper concentration
Female
Yes
Sibling of 277900.37.1
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