Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.S1125_H1126Fs
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ATP7B

NM_000053.4:p.S1125_H1126Fs

Associated Papers

Geographic distribution of ATP7B mutations in Wilson disease.

Gomes A et al.

Annals of Human Biology, 2016

Phenotypic and genetic characterization of a cohort of pediatric Wilson disease patients.

Abdel Ghaffar TY et al.

Bmc Pediatrics, 2011

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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."