Varaico: Literature-Extracted Genetic Variants

Gene:ATP7A
Variant:p.Q649Splc
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ATP7A

NM_000052.7:p.Q649Splc

Associated Papers

Metal-Dependent Regulation of ATP7A and ATP7B in Fibroblast Cultures.

Lenartowicz M et al.

Frontiers in Molecular Neuroscience, 2016

Clinical expression of Menkes disease in females with normal karyotype.

Møller LB et al.

Orphanet Journal of Rare Diseases, 2012

Splice site mutations in the ATP7A gene.

Skjørringe T et al.

Plos One, 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."