Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.L1015P
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ATP7B

NM_000053.4:p.L1015P

Associated Papers

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

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

Li M et al.

Bmc Gastroenterology, 2021

Pathogenic gene variation spectrum and carrier screening for Wilson's disease in Qingdao area.

Qiao L et al.

Molecular Genetics & Genomic Medicine, 2021

Wilson disease patient with rare heterozygous mutations in ATP7B accompanied by distinctive nocturnal enuresis: A case report.

Zhang S et al.

Medicine, 2020

Anemia following zinc treatment for Wilson's disease: a case report and literature review.

Cai S et al.

Bmc Gastroenterology, 2019

iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Wang M et al.

Scientific Reports, 2016

27527004 (PubMed )
Supplement: srep31321-s3.xls › NovelVar

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

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

Abuduxikuer K et al.

Plos One, 2014

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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."