Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.E623_E624Splc
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ATP7B

NM_000053.4:p.E623_E624Splc

Associated Papers

Pathogenicity analysis of ATP7B in pediatric patients with Wilson's disease and functional verification of alternative splice variants.

Wang Y et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2025

Clinical and genetic characterization of pediatric patients with Wilson's disease from Yunnan province where ethnic minorities gather.

Wang Y et al.

Frontiers in Genetics, 2023

The spectrum of pathogenic variants of the ATP7B gene in Wilson disease in the Russian Federation.

Balashova MS et al.

Journal of Trace Elements in Medicine and Biology : Organ of the Society for Minerals and Trace Elements (gms), 2020

Biochemical and molecular characterisation of neurological Wilson disease.

Seo GH et al.

Journal of Medical Genetics, 2018

Multiplex Ligation-dependent Probe Amplification Analysis Subsequent to Direct DNA Full Sequencing for Identifying ATP7B Mutations and Phenotype Correlations in Children with Wilson Disease.

Shim JO et al.

Journal of Korean Medical Science, 2018

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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."