Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.P1123L
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ATP7B

NM_000053.4:p.P1123L

Associated Papers

Functional Screen of Wilson Disease ATP7B Variants Reveals Residual Transport Activities.

Calvo JS et al.

Human Mutation, 2025

Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders.

Jurgens JA et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

38585811 (PubMed )
Supplement: media-3.xlsx › Sheet1

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

Li M et al.

Bmc Gastroenterology, 2021

The Prevalence of Wilson's Disease: An Update.

Sandahl TD et al.

Hepatology (baltimore, Md.), 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."