Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.L722insFs
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ATP7B

NM_000053.4:p.L722insFs

Associated Papers

Mutation spectrum and polymorphisms in ATP7B identified on direct sequencing of all exons in Chinese Han and Hui ethnic patients with Wilson's disease.

Gu YH et al.

Clinical Genetics, 2003

Haplotype and mutation analysis in Japanese patients with Wilson disease.

Nanji MS et al.

American Journal of Human Genetics, 1997

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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."