Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.Q447_T448delFs
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ATP7B

NM_000053.4:p.Q447_T448delFs

Associated Papers

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

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

Clinical molecular diagnosis of Wilson disease.

Bennett J et al.

Seminars in Liver Disease, 2011

Long-term follow-up of Wilson disease: natural history, treatment, mutations analysis and phenotypic correlation.

Bruha R et al.

Liver International : Official Journal of the International Association for the Study of the Liver, 2011

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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