Varaico: Literature-Extracted Genetic Variants

Gene:ATP7A
Variant:p.G728D
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ATP7A

NM_000052.7:p.G728D

Associated Papers

Characterization of ATP7A missense mutants suggests a correlation between intracellular trafficking and severity of Menkes disease.

Skjørringe T et al.

Scientific Reports, 2017

Neurodevelopment and brain growth in classic Menkes disease is influenced by age and symptomatology at initiation of copper treatment.

Kaler SG

Journal of Trace Elements in Medicine and Biology : Organ of the Society for Minerals and Trace Elements (gms), 2014

Crystal structure of a copper-transporting PIB-type ATPase.

Gourdon P et al.

Nature, 2011

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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."