Varaico: Literature-Extracted Genetic Variants

Gene:ATP7A
Variant:p.Y343*
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ATP7A

NM_000052.7:p.Y343*

Associated Papers

Identification of three novel mutations in the MNK gene in three unrelated Japanese patients with classical Menkes disease.

Ogawa A et al.

Journal of Human Genetics, 1999

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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."