Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.E1064D
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ATP7B

NM_000053.4:p.E1064D

Associated Papers

The distinct functional properties of the nucleotide-binding domain of ATP7B, the human copper-transporting ATPase: analysis of the Wilson disease mutations E1064A, H1069Q, R1151H, and C1104F.

Morgan CT et al.

The Journal of Biological Chemistry, 2004

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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."