Varaico: Literature-Extracted Genetic Variants

Gene:ZNF408
Variant:p.D42E
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ZNF408

NM_024741.3:p.D42E

Associated Papers

Bilateral tractional retinal detachments complicating hemolytic-uremic syndrome.

Ambati NR et al.

American Journal of Ophthalmology Case Reports, 2025

A comprehensive WGS-based pipeline for the identification of new candidate genes in inherited retinal dystrophies.

González-Del Pozo M et al.

Npj Genomic Medicine, 2022

35246562 (PubMed )
Supplement: 41525_2022_286_MOESM1_ESM.pdf

Loss of human ICOSL results in combined immunodeficiency.

Roussel L et al.

The Journal of Experimental Medicine, 2018

30498080 (PubMed )
Supplement: JEM_20180668_TableS1.xlsx › SR5064319_min_10_reads_annotate
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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."