Varaico: Literature-Extracted Genetic Variants

Gene:ATP7A
Variant:p.L1289F
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ATP7A

NM_000052.7:p.L1289F

Associated Papers

Molecular Diagnostics of Copper-Transporting Protein Mutations Allows Early Onset Individual Therapy of Menkes Disease.

Králík L et al.

Folia Biologica, 2017

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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."