Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.T1220_G1221ins1
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ATP7B

NM_000053.4:p.T1220_G1221ins1

Associated Papers

Novel mutations in ATP7B in Chinese patients with Wilson's disease and identification of kidney disorder of thinning of the glomerular basement membrane.

Xu H et al.

Frontiers in Neurology, 2023

Laboratory and clinical evaluation of a microarray for the detection of ATP7B mutations in Wilson disease in China.

Jia S et al.

Journal of Clinical Laboratory Analysis, 2022

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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."