Varaico: Literature-Extracted Genetic Variants

Gene:HUWE1
Variant:p.K4295N
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HUWE1

NM_031407.7:p.K4295N

Associated Papers

Roles of the HUWE1 ubiquitin ligase in nervous system development, function and disease.

Giles AC et al.

Neural Development, 2020

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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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."