Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.V937fs
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ATP7B

NM_000053.4:p.V937fs

Associated Papers

Wilson's Disease Preceded by Schizophrenia-like Symptoms with Frontal-dominant Leukoencephalopathy.

Miyano R et al.

Internal Medicine (tokyo, Japan), 2025

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

Molecular analysis of 53 Chinese families with Wilson's disease: Six novel mutations identified.

Xiao Z et al.

Molecular Genetics & Genomic Medicine, 2021

Clinical and Genetic Spectra of Inherited Liver Disease in Children in China.

Fang Y et al.

Frontiers in Pediatrics, 2021

33763395 (PubMed )
Supplement: Data_Sheet_1.PDF

Challenges in molecular diagnosis of Wilson disease: viewpoint from the clinical laboratory.

Poon KS et al.

Journal of Clinical Pathology, 2020

Targeted next-generation sequencing of the ATP7B gene for molecular diagnosis of Wilson disease.

Poon KS et al.

Clinical Biochemistry, 2016

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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."