Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.G1061W
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ATP7B

NM_000053.4:p.G1061W

Associated Papers

Clinical and genetic characterization of patients with late onset Wilson's disease.

Yang W et al.

Npj Genomic Medicine, 2024

39719440 (PubMed )
Supplement: 41525_2024_459_MOESM1_ESM.pdf

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

Zhang S et al.

Translational Neurodegeneration, 2022

Somatic activating mutations in MAP2K1 cause melorheostosis.

Kang H et al.

Nature Communications, 2018

29643386 (PubMed )
Supplement: 41467_2018_3720_MOESM2_ESM.xlsx › WES-mutations.txt
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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."