Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.N404fs
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ATP7B

NM_000053.4:p.N404fs

Associated Papers

Different Response Behavior to Therapeutic Approaches in Homozygotic Wilson's Disease Twins with Clinical Phenotypic Variability: Case Report and Literature Review.

Samadzadeh S et al.

Genes, 2022

Epidemiology and introduction to the clinical presentation of Wilson disease.

Lo C et al.

Handbook of Clinical Neurology, 2017

Monozygotic female twins discordant for phenotype of Wilson's disease.

Członkowska A et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2009

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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."