Varaico: Literature-Extracted Genetic Variants

Gene:CRX
Variant:p.I138fs
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CRX

NM_000554.6:p.I138fs

Associated Papers

Cone Rod Homeobox (CRX): literature review and new insights.

Leigh A et al.

Ophthalmic Genetics, 2025

Disease-causing mutations in genes encoding transcription factors critical for photoreceptor development.

Sun C et al.

Frontiers in Molecular Neuroscience, 2023

Retinal Organoids: A Human Model System for Development, Diseases, and Therapies.

Kandoi S et al.

Advances in Experimental Medicine and Biology, 2023

Allele-specific gene editing to rescue dominant CRX-associated LCA7 phenotypes in a retinal organoid model.

Chirco KR et al.

Stem Cell Reports, 2021

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

Kruczek K et al.

Stem Cell Reports, 2021

Mechanisms of blindness: animal models provide insight into distinct CRX-associated retinopathies.

Tran NM et al.

Developmental Dynamics : an Official Publication of the American Association of Anatomists, 2014

Mechanistically distinct mouse models for CRX-associated retinopathy.

Tran NM et al.

Plos Genetics, 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."