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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ATP7B

Variant:p.V750delFs

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ATP7B

NM_000053.4:p.V750delFs

hg38:chr13:51958415 CA>C

Associated Papers

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

Imai T et al.

Human Genome Variation, 2024

39209822 (PubMed )

Supplement: 41439_2024_283_MOESM1_ESM.docx

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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."