Varaico: Literature-Extracted Genetic Variants

Gene:CRX
Variant:p.P145fs
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CRX

NM_000554.6:p.P145fs

Associated Papers

Four Unique Genetic Variants in Three Genes Account for 62.7% of Early-Onset Severe Retinal Dystrophy in Chile: Diagnostic and Therapeutic Consequences.

Moya R et al.

International Journal of Molecular Sciences, 2024

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

Kim DG et al.

Genes, 2023

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

Toward the Mutational Landscape of Autosomal Dominant Retinitis Pigmentosa: A Comprehensive Analysis of 258 Spanish Families.

Martin-Merida I et al.

Investigative Ophthalmology & Visual Science, 2018

Multimodal Imaging in Autosomal Dominant Cone-Rod Dystrophy Caused by Novel CRX Variant.

D'Esposito F et al.

Ophthalmic Research, 2018

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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."