Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.I945T
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ATP7B

NM_000053.4:p.I945T

Associated Papers

HSD17B13 truncated variant is associated with a mild hepatic phenotype in Wilson's Disease.

Ferenci P et al.

Jhep Reports : Innovation in Hepatology, 2019

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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."