Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.V1140D
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ATP7B

NM_000053.4:p.V1140D

Associated Papers

Combined clinical and genomic analysis uncovers neonatal-onset Wilson disease in two siblings with idiopathic cholestasis.

Khabou B et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2026

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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."