Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.N958delFs
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ATP7B

NM_000053.4:p.N958delFs

Associated Papers

Laboratory and clinical evaluation of a microarray for the detection of ATP7B mutations in Wilson disease in China.

Jia S et al.

Journal of Clinical Laboratory Analysis, 2022

Mutation spectrum of ATP7B gene in pediatric patients with Wilson disease in Vietnam.

Huong NTM et al.

Molecular Genetics and Metabolism Reports, 2022

Genetics and epigenetic factors of Wilson disease.

Medici V et al.

Annals of Translational Medicine, 2019

Identification and characterization of a novel 43-bp deletion mutation of the ATP7B gene in a Chinese patient with Wilson's disease: a case report.

Liu G et al.

Bmc Medical Genetics, 2018

29649982 (PubMed )
Supplement: 12881_2018_567_MOESM2_ESM.docx

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

Jang JH et al.

Journal of Human Genetics, 2017

[Haplotype analysis at R778L mutation of ATP7B gene in Korean patients with Wilson disease].

Jin HS et al.

The Korean Journal of Hepatology, 2009

Regional distribution of mutations of the ATP7B gene in patients with Wilson disease: impact on genetic testing.

Ferenci P

Human Genetics, 2006

Gene symbol: ATP7B. Disease: Wilson disease.

Santosh S et al.

Human Genetics, 2006

Gene symbol: ATP7B. Disease: Wilson disease.

Ray K et al.

Human Genetics, 2005

Gene symbol: ATP7B. Disease: Wilson disease.

Ray K et al.

Human Genetics, 2005

Gene symbol: ATP7B. Disease: Wilson disease.

Ray K et al.

Human Genetics, 2005

Novel mutations of the ATP7B gene in Japanese patients with Wilson disease.

Kusuda Y et al.

Journal of Human Genetics, 2000

Molecular analysis and diagnosis in Japanese patients with Wilson's disease.

Shimizu N et al.

Pediatrics International : Official Journal of the Japan Pediatric Society, 1999

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