Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.K910_A911Splc
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ATP7B

NM_000053.4:p.K910_A911Splc

Associated Papers

Use of Estonian Biobank data and participant recall to improve Wilson's disease management.

Nurm M et al.

European Journal of Human Genetics : Ejhg, 2025

Atypical Presentation of Wilson Disease: Unravelling a Clinical and Radiological Complexity in a Rare Case.

Vagha K et al.

Cureus, 2024

Analysis of clinically relevant variants from ancestrally diverse Asian genomes.

Chan SH et al.

Nature Communications, 2022

36335097 (PubMed )
Supplement: 41467_2022_34116_MOESM4_ESM.zip › NCOMMS-22-14716A_SupplementaryData › NCOMM-22-14716A_SupplementaryData_2.xlsx › SuppData_2

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

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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."