Varaico: Literature-Extracted Genetic Variants

Gene:ATP7A
Variant:p.Q724_F725Splc
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ATP7A

NM_000052.7:p.Q724_F725Splc

Associated Papers

Occipital Horn Syndrome as a Result of Splice Site Mutations in ATP7A. No Activity of ATP7A Splice Variants Missing Exon 10 or Exon 15.

Møller LB et al.

Frontiers in Molecular Neuroscience, 2021

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."