Varaico: Literature-Extracted Genetic Variants

Gene:ATP7A
Variant:p.E982*
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ATP7A

NM_000052.7:p.E982*

Associated Papers

Whole-Exome Sequencing, Proteome Landscape, and Immune Cell Migration Patterns in a Clinical Context of Menkes Disease.

Martinez-Fierro ML et al.

Genes, 2021

34069220 (PubMed )
Supplement: genes-12-00744-s001.zip › genes-1168754-supplementary.pdf

Twenty-five novel mutations including duplications in the ATP7A gene.

Moizard MP et al.

Clinical Genetics, 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."