Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.I1311N
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ATP7B

NM_000053.4:p.I1311N

Associated Papers

Clinical Characteristics, Genetic Features, and Long-Term Outcome of Wilson's Disease in a Taiwanese Population: An 11-Year Follow-Up Study.

Fan SP et al.

Journal of Movement Disorders, 2023

Clinical and genetic characterization of pediatric patients with Wilson's disease from Yunnan province where ethnic minorities gather.

Wang Y et al.

Frontiers in Genetics, 2023

Clinical and genetic characterization of a large cohort of patients with Wilson's disease in China.

Zhang S et al.

Translational Neurodegeneration, 2022

Contribution of intragenic deletions to mutation spectrum in Chinese patients with Wilson's disease and possible mechanism underlying ATP7B gross deletions.

Chen YC et al.

Parkinsonism & Related Disorders, 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."