Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.T871I
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ATP7B

NM_000053.4:p.T871I

Associated Papers

The ATP7B c.3316 G > A variant is associated with mild subphenotype in Wilson disease: a single-center cohort study.

Liu L et al.

Orphanet Journal of Rare Diseases, 2026

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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