Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.M996_A1003Fs
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ATP7B

NM_000053.4:p.M996_A1003Fs

Associated Papers

Are the new genetic tools for diagnosis of Wilson disease helpful in clinical practice?

Espinós C et al.

Jhep Reports : Innovation in Hepatology, 2020

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."