Varaico: Literature-Extracted Genetic Variants

Gene:HUWE1
Variant:p.G660R
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HUWE1

NM_031407.7:p.G660R

Associated Papers

Structural ubiquitin contributes to K48 linkage specificity of the HECT ligase Tom1.

Warner K et al.

Cell Reports, 2025

Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.

Zhang Y et al.

Molecular Neurobiology, 2021

33860439 (PubMed )
Supplement: 12035_2021_2377_MOESM14_ESM.xlsx › NDD_probands__public_

HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients.

Moortgat S et al.

European Journal of Human Genetics : Ejhg, 2018

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