Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.N751fs
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ATP7B

NM_001005918.3:p.N751fs

Associated Papers

Wilson disease (novel ATP7B variants) with concomitant FLNC-related cardiomyopathy.

Imai T et al.

Human Genome Variation, 2024

The mutation spectrum and ethnic distribution of Wilson disease, a review.

Beyzaei Z et al.

Molecular Genetics and Metabolism Reports, 2024

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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."