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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ATP7B

Variant:p.G43insFs

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ATP7B

NM_000053.4:p.G43insFs

hg38:chr13:51975092 C>CCGCGG

Associated Papers

New mutations and polymorphisms of the ATP7B gene in sporadic Wilson disease.

Lu CX et al.

European Journal of Medical Genetics, 2014

24878384 (PubMed )

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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."