Varaico: Literature-Extracted Genetic Variants

Gene:EYS
Variant:p.N2803insFs
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EYS

NM_001142800.2:p.N2803insFs

Associated Papers

Whole-exome sequencing in children with dyslexia implicates rare variants in CLDN3 and ion channel genes.

Marianski K et al.

Human Genetics, 2025

41442065 (PubMed )
Supplement: 439_2025_2796_MOESM4_ESM.xlsx › ST2

Panel-Based Genetic Testing in a Consecutive Series of Individuals with Inherited Retinal Diseases in Australia: Identifying Predictors of a Diagnosis.

Britten-Jones AC et al.

Genes, 2025

40869936 (PubMed )
Supplement: genes-16-00888-s001.zip › genes-3753886-Supplemental_materials.pdf

EYS Mutations Causing Autosomal Recessive Retinitis Pigmentosa: Changes of Retinal Structure and Function with Disease Progression.

McGuigan DB et al.

Genes, 2017

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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."