Varaico: Literature-Extracted Genetic Variants

Gene:ATP7A
Variant:p.I282delFs
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ATP7A

NM_000052.7:p.I282delFs

Associated Papers

Genotype-phenotype correlations for a wide spectrum of mutations in the Wilson disease gene (ATP7B).

Panagiotakaki E et al.

American Journal of Medical Genetics. Part A, 2004

Haplotype and mutation analysis in Greek patients with Wilson disease.

Loudianos G et al.

European Journal of Human Genetics : Ejhg, 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."