Varaico: Literature-Extracted Genetic Variants

Gene:CRX
Variant:p.S150fs
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CRX

NM_000554.6:p.S150fs

Associated Papers

[Analysis of clinical manifestations and genetic variants among 11 Chinese pedigrees affected with Leber congenital amaurosis].

Bai Z et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2025

Systematic review of genotype-phenotype associations in CRX-associated retinal dystrophies.

Banjak M et al.

Bmj Open Ophthalmology, 2025

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

Hahn LC et al.

Ophthalmology. Retina, 2025

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

Yi Z et al.

Experimental Eye Research, 2019

The phenotypic variability of retinal dystrophies associated with mutations in CRX, with report of a novel macular dystrophy phenotype.

Hull S et al.

Investigative Ophthalmology & Visual Science, 2014

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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."