Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.E429fs
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ATP7B

NM_000053.4:p.E429fs

Associated Papers

Pathogenicity analysis of ATP7B in pediatric patients with Wilson's disease and functional verification of alternative splice variants.

Wang Y et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2025

Dysfunction of ATP7B Splicing Variant Caused by Enhanced Interaction With COMMD1 in Wilson Disease.

Zhou D et al.

Cellular and Molecular Gastroenterology and Hepatology, 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."