Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.S876C
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ATP7B

NM_000053.4:p.S876C

Associated Papers

Advancing Newborn Screening in Washington State: A Novel Multiplexed LC-MS/MS Proteomic Assay for Wilson Disease and Inborn Errors of Immunity.

Klippel C et al.

International Journal of Neonatal Screening, 2025

Functional Screen of Wilson Disease ATP7B Variants Reveals Residual Transport Activities.

Calvo JS et al.

Human Mutation, 2025

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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."