Associated Papers
Analysis of mutations spectrum in the ATP7B gene in patients with Wilson disease using massively parallel sequencing.
Sivtsev AA et al.
Klinicheskaia Laboratornaia Diagnostika, 2022
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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