Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.M996T
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ATP7B

NM_000053.4:p.M996T

Associated Papers

Spectrum and classification of ATP7B variants with clinical correlation in children with Wilson disease.

Al-Obaidi RG et al.

Saudi Medical Journal, 2025

Direct Measurement of ATP7B Peptides Is Highly Effective in the Diagnosis of Wilson Disease.

Collins CJ et al.

Gastroenterology, 2021

GESPA: classifying nsSNPs to predict disease association.

Khurana JK et al.

Bmc Bioinformatics, 2015

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

Twenty-four novel mutations in Wilson disease patients of predominantly European ancestry.

Cox DW et al.

Human Mutation, 2005

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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."