Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.A1195V
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ATP7B

NM_000053.4:p.A1195V

Associated Papers

Diagnostic Pitfalls in Wilson Disease with Autoimmune Features: A Case Report.

Lopes SR et al.

Ge Portuguese Journal of Gastroenterology, 2025

Clinical and Genetic Profile of Pediatric and Adult Wilson's Disease in India.

Kulkarni AV et al.

Gastro Hep Advances, 2025

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

Li M et al.

Bmc Gastroenterology, 2021

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."