Varaico: Literature-Extracted Genetic Variants

Gene:ZNF408
Variant:p.H455Y
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ZNF408

NM_024741.3:p.H455Y

Associated Papers

Phenotyping and genotyping FEVR: Molecular genetics, clinical and imaging features, and therapeutics.

Wang Y et al.

Progress in Retinal and Eye Research, 2025

Dual inheritance patterns: A spectrum of non-syndromic inherited retinal disease phenotypes with varying molecular mechanisms.

Holtes LK et al.

Progress in Retinal and Eye Research, 2025

Variability in Gene Expression is Associated with Incomplete Penetrance in Inherited Eye Disorders.

Green DJ et al.

Genes, 2020

32050448 (PubMed )
Supplement: genes-11-00179-s001.zip › Supplementary_File_3.xlsx › gnomAD_overlap_autosomal

Modeling ZNF408-Associated FEVR in Zebrafish Results in Abnormal Retinal Vasculature.

Karjosukarso DW et al.

Investigative Ophthalmology & Visual Science, 2020

An FEVR-associated mutation in ZNF408 alters the expression of genes involved in the development of vasculature.

Karjosukarso DW et al.

Human Molecular Genetics, 2018

Whole-exome sequencing reveals ZNF408 as a new gene associated with autosomal recessive retinitis pigmentosa with vitreal alterations.

Avila-Fernandez A et al.

Human Molecular Genetics, 2015

ZNF408 is mutated in familial exudative vitreoretinopathy and is crucial for the development of zebrafish retinal vasculature.

Collin RW et al.

Proceedings of the National Academy of Sciences of the United States of America, 2013

Complex genetics of familial exudative vitreoretinopathy and related pediatric retinal detachments.

Kondo H

Taiwan Journal of Ophthalmology, 0

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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."