Varaico: Literature-Extracted Genetic Variants

Gene:ATP7A
Variant:p.A126fs
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ATP7A

NM_000052.7:p.A126fs

Associated Papers

Defining the Clinical, Molecular and Ultrastructural Characteristics in Occipital Horn Syndrome: Two New Cases and Review of the Literature.

Beyens A et al.

Genes, 2019

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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."