Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.L1088S
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ATP7B

NM_000053.4:p.L1088S

Associated Papers

Clinical and genetic characterization of patients with late onset Wilson's disease.

Yang W et al.

Npj Genomic Medicine, 2024

39719440 (PubMed )
Supplement: 41525_2024_459_MOESM1_ESM.pdf

Mutation analysis of the ATP7B gene and genotype-phenotype correlation in Chinese patients with Wilson disease.

Li M et al.

Bmc Gastroenterology, 2021

Clinical features and outcome of Wilson's disease with generalized epilepsy in Chinese patients.

Wang RM et al.

Cns Neuroscience & Therapeutics, 2020

Spectrum and Classification of ATP7B Variants in a Large Cohort of Chinese Patients with Wilson's Disease Guides Genetic Diagnosis.

Dong Y et al.

Theranostics, 2016

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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."