Varaico: Literature-Extracted Genetic Variants

Gene:CRX
Variant:p.I138delFs
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CRX

NM_000554.6:p.I138delFs

Associated Papers

Application of patient-derived induced pluripotent stem cells and organoids in inherited retinal diseases.

Liang Y et al.

Stem Cell Research & Therapy, 2023

Gene Therapy of Dominant CRX-Leber Congenital Amaurosis using Patient Stem Cell-Derived Retinal Organoids.

Kruczek K et al.

Stem Cell Reports, 2021

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

Yi Z et al.

Experimental Eye Research, 2019

Autosomal-dominant Leber Congenital Amaurosis Caused by a Heterozygous CRX Mutation in a Father and Son.

Arcot Sadagopan K et al.

Ophthalmic Genetics, 2015

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

Two novel CRX mutant proteins causing autosomal dominant Leber congenital amaurosis interact differently with NRL.

Nichols LL et al.

Human Mutation, 2010

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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."