Varaico: Literature-Extracted Genetic Variants

Gene:CRB1
Variant:p.A521V
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CRB1

NM_201253.3:p.A521V

Associated Papers

Novel Genotype-Phenotype Correlations in CRB1-Retinopathies: Insights from Isoforms and Protein Domains Linked to Disease Severity.

Rodriguez-Martinez AC et al.

Ophthalmology Science, 2026

Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis.

Panneman DM et al.

Frontiers in Cell and Developmental Biology, 2023

36819107 (PubMed )
Supplement: Table4.xlsx › Results

CRB1-Related Retinal Dystrophies in a Cohort of 50 Patients: A Reappraisal in the Light of Specific Müller Cell and Photoreceptor CRB1 Isoforms.

Mairot K et al.

International Journal of Molecular Sciences, 2021

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