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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ATP7B

Variant:p.E1086fs

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ATP7B

NM_000053.4:p.E1086fs

hg38:chr13:51942542 CTC>N

Associated Papers

Genetics of Wilson disease and Wilson-like phenotype in a clinical series from eastern Spain.

Sánchez-Monteagudo A et al.

Clinical Genetics, 2020

32043565 (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."