Varaico: Literature-Extracted Genetic Variants

Gene:ATP7A
Variant:p.G1375Splc
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ATP7A

NM_000052.7:p.G1375Splc

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

Splice site mutations in the ATP7A gene.

Skjørringe T et al.

Plos One, 2011

Molecular diagnosis of Menkes disease: genotype-phenotype correlation.

Møller LB et al.

Biochimie, 2009

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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."