Varaico: Literature-Extracted Genetic Variants

Gene:CRX
Variant:p.E80G
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CRX

NM_000554.6:p.E80G

Associated Papers

Decoding the mechanisms of cooperative DNA binding by the Paired-like homeodomain family.

Cain B et al.

Biorxiv : the Preprint Server for Biology, 2025

41279221 (PubMed )
Supplement: media-2.xlsx › SuppTable2

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

Banjak M et al.

Bmj Open Ophthalmology, 2025

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

Zheng Y et al.

Genome Research, 2025

Mutational scanning of CRX classifies clinical variants and reveals biochemical properties of the transcriptional effector domain.

Shepherdson JL et al.

Genome Research, 2024

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

Missense mutations in CRX homeodomain cause dominant retinopathies through two distinct mechanisms.

Zheng Y et al.

Elife, 2023

Missense mutations in CRX homeodomain cause dominant retinopathies through two distinct mechanisms.

Zheng Y et al.

Biorxiv : the Preprint Server for Biology, 2023

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

Yi Z et al.

Experimental Eye Research, 2019

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

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

CRX variants in cone-rod dystrophy and mutation overview.

Huang L et al.

Biochemical and Biophysical Research Communications, 2012

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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."