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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HUWE1

Variant:p.L3294R

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HUWE1

NM_031407.7:p.L3294R

hg38:chrX:53549113 A>C

Associated Papers

HAPSTR1 localizes HUWE1 to the nucleus to limit stress signaling pathways.

Monda JK et al.

Cell Reports, 2023

37167062 (PubMed )

Supplement: NIHMS1905370-supplement-1.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."