Varaico: Literature-Extracted Genetic Variants

Gene:CRX
Variant:p.Q228H
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CRX

NM_000554.6:p.Q228H

Associated Papers

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

Kim DG et al.

Genes, 2023

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

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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."