Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.V42I
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ATP7B

NM_000053.4:p.V42I

Associated Papers

Defining pathogenicity of NOTCH2 variants for diagnosis of Alagille syndrome type 2 using a large cohort of patients.

Li ZD et al.

Liver International : Official Journal of the International Association for the Study of the Liver, 2022

Apical targeting and Golgi retention signals reside within a 9-amino acid sequence in the copper-ATPase, ATP7B.

Braiterman L et al.

American Journal of Physiology. Gastrointestinal and Liver Physiology, 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."