Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.G711W
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ATP7B

NM_000053.4:p.G711W

Associated Papers

The Genomic Landscape of Wilson Disease in a Pan India Disease Cohort and Population-Scale Data.

Kumar M et al.

Movement Disorders Clinical Practice, 2025

Clinical and Molecular Analysis of ATP7B Variants Identified by Next-Generation Sequencing in Iraqi Adults With Wilson Disease.

Al-Obaidi RGY et al.

Sultan Qaboos University Medical Journal, 2025

WilsonGenAI a deep learning approach to classify pathogenic variants in Wilson Disease.

Vatsyayan A et al.

Plos One, 2024

38758754 (PubMed )
Supplement: pone.0303787.s016.xlsx › S4table

Systematic Analysis and Insights Into the Mutation Spectrum and Ethnic Differences in ATP7B Mutations Associated With Wilson Disease.

Lao TD et al.

Biomarker Insights, 2024

Genomic Variations in ATP7B Gene in Indian Patients with Wilson Disease.

Nagral A et al.

Indian Journal of Pediatrics, 2023

Prevalent Pathogenic Variants of ATP7B in Chinese Patients with Wilson's Disease: Geographical Distribution and Founder Effect.

Yang GM et al.

Genes, 2021

Genetic analysis of ATP7B in 102 south Indian families with Wilson disease.

Singh N et al.

Plos One, 2019

GESPA: classifying nsSNPs to predict disease association.

Khurana JK et al.

Bmc Bioinformatics, 2015

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

In silico investigation of the ATP7B gene: insights from functional prediction of non-synonymous substitution to protein structure.

Squitti R et al.

Biometals : an International Journal on the Role of Metal Ions in Biology, Biochemistry, and Medicine, 2014

A study of Wilson disease mutations in Britain.

Curtis D et al.

Human Mutation, 1999

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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."