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PMID 12325021 2002 Abnormal mRNA splicing resulting from consensus sequence splicing mutations of ATP7B.
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PMID 9482578 1998 Novel ATP7B mutations causing Wilson disease in several Israeli ethnic groups.
PMID 23518715 2013 A genetic study of Wilson's disease in the United Kingdom.
PMID 9452121 1998 Mutations of ATP7B gene in Wilson disease in Japan: identification of nine mutations and lack of clear founder effect in a Japanese population.
PMID 17919502 2007 Distinct Wilson's disease mutations in ATP7B are associated with enhanced binding to COMMD1 and reduced stability of ATP7B.