Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.T1029I
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ATP7B

NM_000053.4:p.T1029I

Associated Papers

Nano-Mediated Molecular Targeting in Diagnosis and Mitigation of Wilson Disease.

Chaturvedi A et al.

Molecular Neurobiology, 2024

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

Collins CJ et al.

Gastroenterology, 2021

Multiplex Ligation-dependent Probe Amplification Analysis Subsequent to Direct DNA Full Sequencing for Identifying ATP7B Mutations and Phenotype Correlations in Children with Wilson Disease.

Shim JO et al.

Journal of Korean Medical Science, 2018

Carrier frequency of Wilson's disease in the Korean population: a DNA-based approach.

Jang JH et al.

Journal of Human Genetics, 2017

GESPA: classifying nsSNPs to predict disease association.

Khurana JK et al.

Bmc Bioinformatics, 2015

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

Estimation of carrier frequencies of six autosomal-recessive Mendelian disorders in the Korean population.

Song MJ et al.

Journal of Human Genetics, 2012

Current state of Wilson disease patients in central Japan.

Tatsumi Y et al.

Internal Medicine (tokyo, Japan), 2010

Identification of novel ATP7B gene mutations and their functional roles in Korean patients with Wilson disease.

Park S et al.

Human Mutation, 2007

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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."