Varaico: Literature-Extracted Genetic Variants

Gene:ATP7A
Variant:p.E771insFs
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ATP7A

NM_000052.7:p.E771insFs

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

13 novel putative mutations in ATP7A found in a cohort of 25 Italian families.

de Gemmis P et al.

Metabolic Brain Disease, 2017

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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."