Varaico: Literature-Extracted Genetic Variants

Gene:ATP7A
Variant:p.E623_S624Splc
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ATP7A

NM_000052.7:p.E623_S624Splc

Associated Papers

Splice site mutations in the ATP7A gene.

Skjørringe T et al.

Plos One, 2011

Light microscopic hair abnormalities in children: retrospective review of 119 cases in a 10-year period.

Shao L et al.

Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society, 0

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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."