Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.G1158fs
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ATP7B

NM_000053.4:p.G1158fs

Associated Papers

Families with Wilson's disease in subsequent generations: clinical and genetic analysis.

Dzieżyc K et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2014

Frameshift and nonsense mutations in the gene for ATPase7B are associated with severe impairment of copper metabolism and with an early clinical manifestation of Wilson's disease.

Gromadzka G et al.

Clinical Genetics, 2005

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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."