Varaico: Literature-Extracted Genetic Variants

Gene:CRX
Variant:p.P205delFs
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CRX

NM_000554.6:p.P205delFs

Associated Papers

Bifocal retinal degeneration observed on ultra-widefield autofluorescence in some cases of CRX-associated retinopathy.

Lin S et al.

Eye (london, England), 2025

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

Hahn LC et al.

Ophthalmology. Retina, 2025

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

Kim DG et al.

Genes, 2023

Modeling Cone/Cone-Rod Dystrophy Pathology by AAV-Mediated Overexpression of Mutant CRX Protein in the Mouse Retina.

Wang Y et al.

Translational Vision Science & Technology, 2021

Association of CRX genotypes and retinal phenotypes confounded by variable expressivity and electronegative electroretinogram.

Nishiguchi KM et al.

Clinical & Experimental Ophthalmology, 2020

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

Yi Z et al.

Experimental Eye Research, 2019

Progressive cone and cone-rod dystrophies: clinical features, molecular genetics and prospects for therapy.

Gill JS et al.

The British Journal of Ophthalmology, 2019

30679166 (PubMed )
Supplement: bjophthalmol-2018-313278supp001.pdf

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

Joo K et al.

Molecular Vision, 2019

Autosomal Dominant Retinal Dystrophy With Electronegative Waveform Associated With a Novel RAX2 Mutation.

Yang P et al.

Jama Ophthalmology, 2015

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

Two siblings with late-onset cone-rod dystrophy and no visible macular degeneration.

Sakuramoto H et al.

Clinical Ophthalmology (auckland, N.z.), 2013

Genotype-phenotype correlation in a German family with a novel complex CRX mutation extending the open reading frame.

Paunescu K et al.

Ophthalmology, 2007

Novel 615delC mutation in the CRX gene in a Japanese family with cone-rod dystrophy.

Itabashi T et al.

American Journal of Ophthalmology, 2004

Progressive cone and cone-rod dystrophies: phenotypes and underlying molecular genetic basis.

Michaelides M et al.

Survey 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."