Varaico: Literature-Extracted Genetic Variants

Gene:ATP7A
Variant:p.C1000*
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ATP7A

NM_000052.7:p.C1000*

Associated Papers

Phenotypic and mutational spectrum of 17 Chinese patients with Menkes Disease.

Xu F et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2025

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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."