Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.T593A
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ATP7B

NM_000053.4:p.T593A

Associated Papers

A mutational study in the transmembrane domain of Ccc2p, the yeast Cu(I)-ATPase, shows different roles for each Cys-Pro-Cys cysteine.

Lowe J et al.

The Journal of Biological Chemistry, 2004

Diagnosis, management and genetic analysis of a cat with primary copper hepatopathy.

Recchia BK et al.

Jfms Open Reports, 0

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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."