277900.G.19.1

Saudi Arabia

Decreased circulating ceruloplasmin concentration; Increased urinary copper concentration

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Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_000053.3:c.4195del	32		Wilson Disease

16 patients with Wilson Disease

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
277900.G.19.2	Saudi Arabia					32 parents and 15 siblings of patients with Wilson Disease

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