Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.V174_K175insFs
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ATP7B

NM_000053.4:p.V174_K175insFs

Associated Papers

Long-term follow-up of Wilson disease: natural history, treatment, mutations analysis and phenotypic correlation.

Bruha R et al.

Liver International : Official Journal of the International Association for the Study of the Liver, 2011

Genotyping microarray as a novel approach for the detection of ATP7B gene mutations in patients with Wilson disease.

Gojová L et al.

Clinical Genetics, 2008

Mutational analysis of 65 Wilson disease patients in Hong Kong Chinese: identification of 17 novel mutations and its genetic heterogeneity.

Mak CM et al.

Journal of Human Genetics, 2008

Mutation analysis of the ATP7B gene and genotype/phenotype correlation in 227 patients with Wilson disease.

Vrabelova S et al.

Molecular Genetics and Metabolism, 0

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