Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.P992_T993insFs
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ATP7B

NM_000053.4:p.P992_T993insFs

Associated Papers

Analysis of most common mutations R778G, R778L, R778W, I1102T and H1069Q in Indian Wilson disease patients: correlation between genotype/phenotype/copper ATPase activity.

Kumar S et al.

Molecular and Cellular Biochemistry, 2007

Familial gene analysis for Wilson disease from north-west Indian patients.

Kumar S et al.

Annals of Human Biology, 0

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