Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.K1013fs
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ATP7B

NM_000053.4:p.K1013fs

Associated Papers

Generation of an induced pluripotent stem cell line ICGi030-A from a Wilson's disease patient carrying a frameshift mutation p.Lys1013fs and missense mutation p.H1069Q in the ATP7B gene.

Zhigalina DI et al.

Stem Cell Research, 2021

The spectrum of pathogenic variants of the ATP7B gene in Wilson disease in the Russian Federation.

Balashova MS et al.

Journal of Trace Elements in Medicine and Biology : Organ of the Society for Minerals and Trace Elements (gms), 2020

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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."