Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.T1033A
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ATP7B

NM_000053.4:p.T1033A

Associated Papers

Navigating the CRISPR/Cas Landscape for Enhanced Diagnosis and Treatment of Wilson's Disease.

Choi W et al.

Cells, 2024

GESPA: classifying nsSNPs to predict disease association.

Khurana JK et al.

Bmc Bioinformatics, 2015

26206375 (PubMed )
Supplement: 12859_2015_673_MOESM2_ESM.xls › Sheet1

Re-evaluation of the penicillamine challenge test in the diagnosis of Wilson's disease in children.

Müller T et al.

Journal of Hepatology, 2007

Structure of the ATP binding domain from the Archaeoglobus fulgidus Cu+-ATPase.

Sazinsky MH et al.

The Journal of Biological Chemistry, 2006

A study of Wilson disease mutations in Britain.

Curtis D et al.

Human Mutation, 1999

Mutation analysis of the ATP7B gene and genotype/phenotype correlation in 227 patients with Wilson disease.

Vrabelova S et al.

Molecular Genetics and Metabolism, 0

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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."