Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.R1301_N1302Splc
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ATP7B

NM_000053.4:p.R1301_N1302Splc

Associated Papers

Novel mutations in ATP7B in Chinese patients with Wilson's disease and identification of kidney disorder of thinning of the glomerular basement membrane.

Xu H et al.

Frontiers in Neurology, 2023

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."