Varaico: Literature-Extracted Genetic Variants

Gene:ATP7A
Variant:p.P259_V260insFs
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ATP7A

NM_000052.7:p.P259_V260insFs

Associated Papers

Critical roles for the COOH terminus of the Cu-ATPase ATP7B in protein stability, trans-Golgi network retention, copper sensing, and retrograde trafficking.

Braiterman L et al.

American Journal of Physiology. Gastrointestinal and Liver Physiology, 2011

21454443 (PubMed )
Supplement: fig4-5table2.pdf

Wilson disease in children: analysis of 57 cases.

Manolaki N et al.

Journal of Pediatric Gastroenterology and Nutrition, 2009

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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."