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277900.G.18
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Subject Details
Country
Saudi Arabia
HPO Terms
Decreased circulating ceruloplasmin concentration; Increased urinary copper concentration
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Parental Consanguinity
Yes
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_000053.3:c.4195del
2
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Remarks
Four patients with Wilson Disease
References
Majumdar et al. 2000
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