Varaico: Literature-Extracted Genetic Variants

Gene:CRX
Variant:p.L299F
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CRX

NM_000554.6:p.L299F

Associated Papers

Mutational scanning of CRX classifies clinical variants and reveals biochemical properties of the transcriptional effector domain.

Shepherdson JL et al.

Genome Research, 2024

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

Kim DG et al.

Genes, 2023

Targeted next generation sequencing and family survey enable correct genetic diagnosis in CRX associated macular dystrophy - a case report.

Al-Khuzaei S et al.

Bmc Ophthalmology, 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

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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."