Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.P821_M822insFs
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ATP7B

NM_000053.4:p.P821_M822insFs

Associated Papers

Discovery of newborn Wilson disease biomarkers via integrated next-generation sequencing and untargeted metabolomics.

Guan X et al.

Orphanet Journal of Rare Diseases, 2025

[A korean family with Wilson disease occurred in two consecutive generations.].

Choi JS et al.

The Korean Journal of Laboratory Medicine, 2006

Identification of novel mutations and the three most common mutations in the human ATP7B gene of Korean patients with Wilson disease.

Yoo HW

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 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."