Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.Q115*
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ATP7B

NM_000053.4:p.Q115*

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

Characterization of the molecular defect in the ATP7B gene in Wilson disease patients from Yugoslavia.

Loudianos G et al.

Genetic Testing, 2003

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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."