Varaico: Literature-Extracted Genetic Variants

Gene:CRX
Variant:p.Y191fs
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CRX

NM_000554.6:p.Y191fs

Associated Papers

Clinical, Genetic, and Histopathological Characteristics of CRX-associated Retinal Dystrophies.

Hahn LC et al.

Ophthalmology. Retina, 2025

Clinical and genetic studies for a cohort of patients with Leber congenital amaurosis.

Zhou Y et al.

Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie, 2024

Genotypic Profile and Clinical Characteristics of CRX-Associated Retinopathy in Koreans.

Kim DG et al.

Genes, 2023

Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy.

Karali M et al.

Scientific Reports, 2022

36460718 (PubMed )
Supplement: 41598_2022_24636_MOESM2_ESM.xlsx › Supplementary_Table_S1

Pathogenicity discrimination and genetic test reference for CRX variants based on genotype-phenotype analysis.

Yi Z et al.

Experimental Eye Research, 2019

Genotypic profile and phenotype correlations of ABCA4-associated retinopathy in Koreans.

Joo K et al.

Molecular Vision, 2019

The phenotypic variability of retinal dystrophies associated with mutations in CRX, with report of a novel macular dystrophy phenotype.

Hull S et al.

Investigative Ophthalmology & Visual Science, 2014

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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."