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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ATP7B

Variant:p.E1081_E1082Splc

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ATP7B

NM_000053.4:p.E1081_E1082Splc

hg38:chr13:51942556 T>G

Associated Papers

Wilson's Disease in China.

Xie JJ et al.

Neuroscience Bulletin, 2017

28265897 (PubMed )

Identification and characterization of a novel splice-site mutation in the Wilson disease gene.

Diao SP et al.

Journal of the Neurological Sciences, 2014

25086856 (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."