Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.V883delFs
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ATP7B

NM_000053.4:p.V883delFs

Associated Papers

Identification and characterization of a novel 43-bp deletion mutation of the ATP7B gene in a Chinese patient with Wilson's disease: a case report.

Liu G et al.

Bmc Medical Genetics, 2018

29649982 (PubMed )
Supplement: 12881_2018_567_MOESM2_ESM.docx

ATP7B Gene Mutations in Croatian Patients with Wilson Disease.

Ljubić H et al.

Genetic Testing and Molecular Biomarkers, 2016

Spectrum and Classification of ATP7B Variants in a Large Cohort of Chinese Patients with Wilson's Disease Guides Genetic Diagnosis.

Dong Y et al.

Theranostics, 2016

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