Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.G1335R
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ATP7B

NM_000053.4:p.G1335R

Associated Papers

An optimized tissue sampling scheme guided by MRI features reveals intratumoral heterogeneity in glioblastoma.

Wang JH et al.

Scientific Reports, 2025

41006500 (PubMed )
Supplement: 41598_2025_17539_MOESM6_ESM.xls › Supplementary_Table.2

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

Early Diagnosis of Wilson's Disease in Children in Southern China by Using Common Parameters.

Zhou J et al.

Frontiers in Genetics, 2022

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

Li M et al.

Bmc Gastroenterology, 2021

A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.

Zheng J et al.

Molecular Genetics & Genomic Medicine, 2019

31165590 (PubMed )
Supplement: MGG3-7-e00748-s004.xlsx › Variants_information

Complex ATP7B mutation patterns in Wilson disease and evaluation of a yeast model for functional analysis of variants.

Li X et al.

Human Mutation, 2019

Spectrum and Classification of ATP7B Variants in a Large Cohort of Chinese Patients with Wilson's Disease Guides Genetic Diagnosis.

Dong Y et al.

Theranostics, 2016

Identification of one novel and nine recurrent mutations of the ATP7B gene in 11 children with Wilson disease.

Geng J et al.

World Journal of Pediatrics : Wjp, 2013

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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."