Varaico: Literature-Extracted Genetic Variants

Gene:ATP7A
Variant:p.G1375Splc
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ATP7A

NM_000052.7:p.G1375Splc

Associated Papers

Splice site mutations in the ATP7A gene.

Skjørringe T et al.

Plos One, 2011

Identification of three novel mutations in Japanese patients with Menkes disease and mutation screening by denaturing high performance liquid chromatography.

Watanabe A et al.

Pediatrics International : Official Journal of the Japan Pediatric Society, 2005

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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."