Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.T1178fs
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ATP7B

NM_000053.4:p.T1178fs

Associated Papers

Under the dual hit: genetic and phenotypic analysis of a Han family with severe adolescent cirrhosis from the convergence of Wilson's disease and favism.

Xie YQ et al.

Gene, 2026

Genetic studies discover novel coding and non-coding mutations in patients with Wilson's disease in China.

Huang C et al.

Journal of Clinical Laboratory Analysis, 2022

Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy.

Takata A et al.

Nature Communications, 2019

31175295 (PubMed )
Supplement: 41467_2019_10482_MOESM7_ESM.xlsx › Supplementary_Data_4
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