Varaico: Literature-Extracted Genetic Variants

Gene:CRX
Variant:p.R43H
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CRX

NM_000554.6:p.R43H

Associated Papers

Exploring the Genetic Causes of Nonsyndromic Retinal Dystrophies in Qatar.

Abiib S et al.

Genes, 2025

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

Novel Bilateral Geographic Atrophy Phenotype Associated With CRX Mutation.

Christensen CA et al.

Journal of Vitreoretinal Diseases, 2025

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

Hahn LC et al.

Ophthalmology. Retina, 2025

Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes.

Hitti-Malin RJ et al.

Biomolecules, 2024

38540785 (PubMed )
Supplement: biomolecules-14-00367-s001.zip › Supplementary_Table_S3-Disease-causing_variants_identified_in_the_solved_probands.xlsx › Variants

Genomic characteristics and immune landscape of super multiple primary lung cancer.

Yang Z et al.

Ebiomedicine, 2024

38364701 (PubMed )
Supplement: mmc2.xlsx › all_212.somatic.igv_recheck.mut

Phenotypic and Genetic Alterations in Adult-Onset Cone and Cone-Rod Dystrophy.

Kim DJ et al.

Ophthalmic Research, 2024

Occult Macular Dysfunction Syndrome: Identification of Multiple Pathologies in a Clinical Spectrum of Macular Dysfunction with Normal Fundus in East Asian Patients: EAOMD Report No. 5.

Fujinami-Yokokawa Y et al.

Genes, 2023

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

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

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

Joo K et al.

Molecular Vision, 2019

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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."