Varaico: Literature-Extracted Genetic Variants

Gene:CP
Variant:p.D769insFs
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CP

NM_000096.4:p.D769insFs

Associated Papers

Mutational analysis of ATP7B gene in Egyptian children with Wilson disease: 12 novel mutations.

Abdelghaffar TY et al.

Journal of Human Genetics, 2008

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."