Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.T993insFs
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ATP7B

NM_000053.4:p.T993insFs

Associated Papers

Epidemiology of Wilson's Disease and Pathogenic Variants of the ATP7B Gene Leading to Diversified Protein Disfunctions.

Ovchinnikova EV et al.

International Journal of Molecular Sciences, 2024

A review and current perspective on Wilson disease.

Patil M et al.

Journal of Clinical and Experimental Hepatology, 2013

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

Identification and molecular characterization of 18 novel mutations in the ATP7B gene from Indian Wilson disease patients: genotype.

Kumar S et al.

Clinical Genetics, 2005

R778L, H1069Q, and I1102T mutation study in neurologic Wilson disease.

Kalita J et al.

Neurology India, 0

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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."