Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.H1069Y
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ATP7B

NM_000053.4:p.H1069Y

Associated Papers

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

Distinct clinical courses according to presenting phenotypes and their correlations to ATP7B mutations in a large Wilson's disease cohort.

Lee BH et al.

Liver International : Official Journal of the International Association for the Study of the Liver, 2011

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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."