Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.V1265_G1268delFs
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ATP7B

NM_000053.4:p.V1265_G1268delFs

Associated Papers

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

Genetic analysis of 55 northern Vietnamese patients with Wilson disease: seven novel mutations in ATP7B.

Tuan Pham LA et al.

Journal of Genetics, 2017

Genotyping microarray as a novel approach for the detection of ATP7B gene mutations in patients with Wilson disease.

Gojová L et al.

Clinical Genetics, 2008

Mutation analysis of the ATP7B gene and genotype/phenotype correlation in 227 patients with Wilson disease.

Vrabelova S et al.

Molecular Genetics and Metabolism, 0

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