Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.K1020_I1021Splc
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ATP7B

NM_000053.4:p.K1020_I1021Splc

Associated Papers

Nano-Mediated Molecular Targeting in Diagnosis and Mitigation of Wilson Disease.

Chaturvedi A et al.

Molecular Neurobiology, 2024

Prevalence of Wilson disease based on genome databases in Japan.

Yamaguchi H et al.

Pediatrics International : Official Journal of the Japan Pediatric Society, 2021

Mutational analysis of 65 Wilson disease patients in Hong Kong Chinese: identification of 17 novel mutations and its genetic heterogeneity.

Mak CM et al.

Journal of Human Genetics, 2008

Clinical and molecular characterization of Wilson disease in Spanish patients.

Brage A et al.

Hepatology Research : the Official Journal of the Japan Society of Hepatology, 2007

Mutation analysis of Wilson disease in the Spanish population -- identification of a prevalent substitution and eight novel mutations in the ATP7B gene.

Margarit E et al.

Clinical Genetics, 2005

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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."