Varaico: Literature-Extracted Genetic Variants

Gene:ZNF408
Variant:p.R541C
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ZNF408

NM_024741.3:p.R541C

Associated Papers

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

Mechanisms of cone sensitivity loss in retinitis pigmentosa.

Simunovic MP et al.

Ophthalmic & Physiological Optics : the Journal of the British College of Ophthalmic Opticians (optometrists), 2024

Compound Heterozygous Mutations in ZNF408 in a Patient with a Late Onset Pigmentary Retinopathy and Relatively Preserved Central Retina.

Nadelmann JB et al.

Documenta Ophthalmologica. Advances in Ophthalmology, 2021

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

Karjosukarso DW et al.

Investigative Ophthalmology & Visual Science, 2020

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

Exome sequencing confirms ZNF408 mutations as a cause of familial retinitis pigmentosa.

Habibi I et al.

Ophthalmic Genetics, 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."