Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.G151delFs
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ATP7B

NM_000053.4:p.G151delFs

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

Current state of Wilson disease patients in central Japan.

Tatsumi Y et al.

Internal Medicine (tokyo, Japan), 2010

Compound overload of copper and iron in patients with Wilson's disease.

Hayashi H et al.

Medical Molecular Morphology, 2006

Mutational analysis of ATP7B and genotype-phenotype correlation in Japanese with Wilson's disease.

Okada T et al.

Human Mutation, 2000

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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."