Varaico: Literature-Extracted Genetic Variants

Gene:ATP7A
Variant:p.Q1385*
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ATP7A

NM_000052.7:p.Q1385*

Associated Papers

Molecular correlates of epilepsy in early diagnosed and treated Menkes disease.

Kaler SG et al.

Journal of Inherited Metabolic Disease, 2010

Translational read-through of a nonsense mutation in ATP7A impacts treatment outcome in Menkes disease.

Kaler SG et al.

Annals of Neurology, 2009

Neonatal diagnosis and treatment of Menkes disease.

Kaler SG et al.

The New England Journal of Medicine, 2008

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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."