Varaico: Literature-Extracted Genetic Variants

Gene:ATP7A
Variant:p.G626R
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ATP7A

NM_000052.7:p.G626R

Associated Papers

Estimated birth prevalence of Menkes disease and ATP7A-related disorders based on the Genome Aggregation Database (gnomAD).

Kaler SG et al.

Molecular Genetics and Metabolism Reports, 2020

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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."