Varaico: Literature-Extracted Genetic Variants

Gene:WDR41
Variant:p.H288del1
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WDR41

NM_018268.4:p.H288del1

Associated Papers

A compound heterozygous mutation in DPAGT1 results in a congenital disorder of glycosylation with a relatively mild phenotype.

Iqbal Z et al.

European Journal of Human Genetics : Ejhg, 2013

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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."