Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.K832insFs
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ATP7B

NM_000053.4:p.K832insFs

Associated Papers

Genetic defects in Indian Wilson disease patients and genotype-phenotype correlation.

Mukherjee S et al.

Parkinsonism & Related Disorders, 2014

A novel COMMD1 mutation Thr174Met associated with elevated urinary copper and signs of enhanced apoptotic cell death in a Wilson Disease patient.

Gupta A et al.

Behavioral and Brain Functions : Bbf, 2010

Molecular pathogenesis of Wilson disease among Indians: a perspective on mutation spectrum in ATP7B gene, prevalent defects, clinical heterogeneity and implication towards diagnosis.

Gupta A et al.

Cellular and Molecular Neurobiology, 2007

Molecular pathogenesis of Wilson disease: haplotype analysis, detection of prevalent mutations and genotype-phenotype correlation in Indian patients.

Gupta A et al.

Human Genetics, 2005

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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."