[PMID 16088907] Twenty-four novel mutations in Wilson disease patients of predominantly European ancestry.


[PMID 17949296] Twenty-four novel mutations in Wilson disease patients of predominantly Italian origin.


[PMID 20333758] Functional analysis of mutations in the ATP loop of the Wilson disease copper transporter, ATP7B.

rs41292782

Parent Gene: ATP7B

Importance: 1
Less common allele: A = 0%
More common allele: G = 100%
My Genotype: Log In
Risk Allele: T
Significance: Likely pathogenic