Varaico: Literature-Extracted Genetic Variants

Gene:CRX
Variant:p.R43C
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CRX

NM_000554.6:p.R43C

Associated Papers

Decoding the mechanisms of cooperative DNA binding by the Paired-like homeodomain family.

Cain B et al.

Biorxiv : the Preprint Server for Biology, 2025

41279221 (PubMed )
Supplement: media-2.xlsx › SuppTable2

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

Genetic characterization of 1210 Japanese pedigrees with inherited retinal diseases by whole-exome sequencing.

Suga A et al.

Human Mutation, 2022

36284460 (PubMed )
Supplement: supplement_1.xlsx › S2-1

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

Nishiguchi KM et al.

Clinical & Experimental Ophthalmology, 2020

Clinical and Genetic Characteristics of 18 Patients from 13 Japanese Families with CRX-associated retinal disorder: Identification of Genotype-phenotype Association.

Fujinami-Yokokawa Y et al.

Scientific Reports, 2020

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

Yi Z et al.

Experimental Eye Research, 2019

Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

Jespersgaard C et al.

Scientific Reports, 2019

30718709 (PubMed )
Supplement: 41598_2018_38007_MOESM2_ESM.xlsx › Ark1

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."