Varaico: Literature-Extracted Genetic Variants

Gene:ATP7A
Variant:p.D642H
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ATP7A

NM_000052.7:p.D642H

Associated Papers

Novel compound heterozygote mutations in the ATP7B gene in an Iranian family with Wilson disease: a case report.

Daneshjoo O et al.

Journal of Medical Case Reports, 2018

Distinct phenotype of a Wilson disease mutation reveals a novel trafficking determinant in the copper transporter ATP7B.

Braiterman LT et al.

Proceedings of the National Academy of Sciences of the United States of America, 2014

Sequence variation in the ATP-binding domain of the Wilson disease transporter, ATP7B, affects copper transport in a yeast model system.

Hsi G et al.

Human Mutation, 2008

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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."