Varaico: Literature-Extracted Genetic Variants

Gene:ATP7A
Variant:p.V767insFs
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ATP7A

NM_000052.7:p.V767insFs

Associated Papers

Management Perspective of Wilson's Disease: Early Diagnosis and Individualized Therapy.

Yuan XZ et al.

Current Neuropharmacology, 2021

The genetics of Wilson disease.

Chang IJ et al.

Handbook of Clinical Neurology, 2017

Genotype-phenotype correlations for a wide spectrum of mutations in the Wilson disease gene (ATP7B).

Panagiotakaki E et al.

American Journal of Medical Genetics. Part A, 2004

High prevalence of the H1069Q mutation in East German patients with Wilson disease: rapid detection of mutations by limited sequencing and phenotype-genotype analysis.

Caca K et al.

Journal of Hepatology, 2001

Mutational analysis of ATP7B and genotype-phenotype correlation in Japanese with Wilson's disease.

Okada T et al.

Human Mutation, 2000

Haplotype and mutation analysis in Japanese patients with Wilson disease.

Nanji MS et al.

American Journal of Human Genetics, 1997

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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."