Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.A1241V
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ATP7B

NM_000053.4:p.A1241V

Associated Papers

Correlation of ATP7B gene mutations with clinical phenotype and radiological features in Indian Wilson disease patients.

Chaudhuri J et al.

Acta Neurologica Belgica, 2022

Genetic analysis of ATP7B in 102 south Indian families with Wilson disease.

Singh N et al.

Plos One, 2019

The Pragmatic Treatment of Wilson's Disease.

Aggarwal A et al.

Movement Disorders Clinical Practice, 2014

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

Mukherjee S et al.

Parkinsonism & Related Disorders, 2014

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

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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."