Varaico: Literature-Extracted Genetic Variants

Gene:ATP7A
Variant:p.G1375Splc
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ATP7A

NM_000052.7:p.G1375Splc

Associated Papers

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."