Varaico: Literature-Extracted Genetic Variants

Gene:HUWE1
Variant:p.R3267H
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HUWE1

NM_031407.7:p.R3267H

Associated Papers

Redefining the catalytic HECT domain boundaries for the HECT E3 ubiquitin ligase family.

Kane EI et al.

Bioscience Reports, 2022

Single suture craniosynostosis: Identification of rare variants in genes associated with syndromic forms.

Clarke CM et al.

American Journal of Medical Genetics. Part A, 2018

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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."