Varaico: Literature-Extracted Genetic Variants

Gene:CRX
Variant:p.K88Q
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CRX

NM_000554.6:p.K88Q

Associated Papers

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

Leigh A et al.

Ophthalmic Genetics, 2025

Aberrant homeodomain-DNA cooperative dimerization underlies distinct developmental defects in two dominant CRX retinopathy models.

Zheng Y et al.

Biorxiv : the Preprint Server for Biology, 2024

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

Liang Y et al.

Stem Cell Research & Therapy, 2023

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

The advancements in precision medicine for Leber congenital amaurosis: Breakthroughs from genetic diagnosis to therapy.

Zhang P et al.

Survey of Ophthalmology, 0

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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."