Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.N505_I506insFs
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ATP7B

NM_000053.4:p.N505_I506insFs

Associated Papers

[Haplotype analysis and possible founder effect at the R778L mutation of the ATP7B gene in Korean patients with Wilson's disease].

Bae SH et al.

The Korean Journal of Hepatology, 2009

Molecular characterization of wilson disease in the Sardinian population--evidence of a founder effect.

Loudianos G et al.

Human Mutation, 1999

Molecular pathology and haplotype analysis of Wilson disease in Mediterranean populations.

Figus A et al.

American Journal of Human Genetics, 1995

Wilson's disease.

Ferenci P

Italian Journal of Gastroenterology and Hepatology, 0

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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."