Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.S501F
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ATP7B

NM_000053.4:p.S501F

Associated Papers

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

Calvo JS et al.

Human Mutation, 2025

40661833 (PubMed )
Supplement: 7485658.f1.pdf

WilsonGenAI a deep learning approach to classify pathogenic variants in Wilson Disease.

Vatsyayan A et al.

Plos One, 2024

38758754 (PubMed )
Supplement: pone.0303787.s016.xlsx › S4table
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