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. 2013 Mar 13;21(11):1308–1311. doi: 10.1038/ejhg.2013.43

Figure 1.

Figure 1

Mutational spectrum of the ATP7B gene in the sample of WD Sardinian patients included in the analysis (ie, patients with unambiguous genotype and detailed geographical provenance of parents, N=178). Only the mutations reported with relative frequencies ≥1% were considered in the computation of q. *Other alleles with relative frequencies <1% (for further details, see Supplementary Table S4).