Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.G496G
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ATP7B

NM_000053.4:p.G496G

Associated Papers

Analyses of ATP7B mRNA in Nasopharyngeal Swab Samples Increase Yields of Wilson Disease Molecular Genetic Diagnostics.

Steiner Mrázová L et al.

Human Mutation, 2026

Phenotypic and genetic characterization of children with Wilson Disease from Northeast China.

Zhang T et al.

Bmc Pediatrics, 2024

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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."