Varaico: Literature-Extracted Genetic Variants

Gene:CRX
Variant:p.S203delFs
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CRX

NM_000554.6:p.S203delFs

Associated Papers

Beyond the phenotype: Exploring inherited retinal diseases with targeted next-generation sequencing in a Turkish cohort.

Ozguc Caliskan B et al.

Clinical Genetics, 2024

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

Yi Z et al.

Experimental Eye Research, 2019

Phenotype Analysis of Retinal Dystrophies in Light of the Underlying Genetic Defects: Application to Cone and Cone-Rod Dystrophies.

Boulanger-Scemama E et al.

International Journal of Molecular Sciences, 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."