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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:UBAP1

Variant:p.E176insFs

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UBAP1

NM_016525.5:p.E176insFs

hg38:chr9:34241551 G>GA

Associated Papers

Ubap1 knock-in mice reproduced the phenotype of SPG80.

Shimozono K et al.

Journal of Human Genetics, 2022

35962060 (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."