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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:EBNA1BP2

Variant:p.N290_K291Splc

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EBNA1BP2

NM_006824.3:p.N290_K291Splc

hg38:chr1:43164579 G>A

Associated Papers

Propensity for paternal inheritance of de novo mutations in Alexander disease.

Li R et al.

Human Genetics, 2006

16365765 (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."