Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.Y715*
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ATP7B

NM_000053.4:p.Y715*

Associated Papers

Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.

Wang H et al.

Scientific Reports, 2025

40604033 (PubMed )
Supplement: 41598_2025_8012_MOESM1_ESM.xlsx › S3

Comprehensive analysis of NGS-based expanded carrier screening and follow-up in southern and southwestern China: results from 3024 Chinese individuals.

Huang Q et al.

Human Genomics, 2024

39380106 (PubMed )
Supplement: 40246_2024_680_MOESM1_ESM.xlsx › Supplementary_Table_3

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

Molecular analysis of 53 Chinese families with Wilson's disease: Six novel mutations identified.

Xiao Z et al.

Molecular Genetics & Genomic Medicine, 2021

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

Singh N et al.

Plos One, 2019

31059521 (PubMed )
Supplement: pone.0215779.s001.pdf

Zinc mono-therapy in pre-symptomatic Chinese children with Wilson disease: a single center, retrospective study.

Abuduxikuer K et al.

Plos One, 2014

Molecular pathogenesis of Wilson disease among Indians: a perspective on mutation spectrum in ATP7B gene, prevalent defects, clinical heterogeneity and implication towards diagnosis.

Gupta A et al.

Cellular and Molecular Neurobiology, 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."