Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.A58insFs
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ATP7B

NM_000053.4:p.A58insFs

Associated Papers

Investigating common mutations in ATP7B gene and the prevalence of Wilson's disease in the Thai population using population-based genome-wide datasets.

Own-Eium P et al.

Journal of Human Genetics, 2025

Current Management of Neurological Wilson's Disease.

Ganaraja VH et al.

Tremor and Other Hyperkinetic Movements (new York, N.y.), 2025

Genomic Variations in ATP7B Gene in Indian Patients with Wilson Disease.

Nagral A et al.

Indian Journal of Pediatrics, 2023

Genetic analysis of ATP7B in 102 south Indian families with Wilson disease.

Singh N et al.

Plos One, 2019

31059521 (PubMed )
Supplement: pone.0215779.s001.pdf
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