Varaico: Literature-Extracted Genetic Variants

Gene:HUWE1
Variant:p.R4187H
Back to variants list

HUWE1

NM_031407.7:p.R4187H

Associated Papers

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

Affected kindred analysis of human X chromosome exomes to identify novel X-linked intellectual disability genes.

Niranjan TS et al.

Plos One, 2015

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."