Varaico: Literature-Extracted Genetic Variants

Gene:ATP7A
Variant:p.M1378insFs
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ATP7A

NM_000052.7:p.M1378insFs

Associated Papers

A 37-year-old Menkes disease patient-Residual ATP7A activity and early copper administration as key factors in beneficial treatment.

Tümer Z et al.

Clinical Genetics, 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."