Varaico: Literature-Extracted Genetic Variants

Gene:ATP7A
Variant:p.E264*
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ATP7A

NM_000052.7:p.E264*

Associated Papers

The metabolic genomic atlas reveals potential drivers and clinically relevant insights into the etiology of esophageal squamous cell carcinoma.

Liu X et al.

Theranostics, 2022

36168622 (PubMed )
Supplement: thnov12p6160s2.xlsx › Table_S2

Estimated birth prevalence of Menkes disease and ATP7A-related disorders based on the Genome Aggregation Database (gnomAD).

Kaler SG et al.

Molecular Genetics and Metabolism Reports, 2020

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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."