Varaico: Literature-Extracted Genetic Variants

Gene:ATP7A
Variant:p.Q649Splc
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ATP7A

NM_000052.7:p.Q649Splc

Associated Papers

Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.

Schmidt A et al.

Nature Genetics, 2024

39039281 (PubMed )
Supplement: 41588_2024_1836_MOESM4_ESM.xlsx › S1

Splice site mutations in the ATP7A gene.

Skjørringe T et al.

Plos One, 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."