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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:UBE2J2

Variant:p.S120G

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UBE2J2

NM_058167.3:p.S120G

hg38:chr1:1257048 T>C

Associated Papers

Doa10/MARCH6 architecture interconnects E3 ligase activity with lipid-binding transmembrane channel to regulate SQLE.

Botsch JJ et al.

Nature Communications, 2024

38195637 (PubMed )

Supplement: 41467_2023_44670_MOESM1_ESM.pdf

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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."