Varaico: Literature-Extracted Genetic Variants

Gene:CRB1
Variant:p.R686C
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CRB1

NM_201253.3:p.R686C

Associated Papers

Detailed Comparison Between Two Main Phenotypes of CRB1-Related Retinal Dystrophy, Pan-retinopathy and Maculopathy.

Zou X et al.

Investigative Ophthalmology & Visual Science, 2025

Signal Peptide Variants in Inherited Retinal Diseases: A Multi-Institutional Case Series.

Jimenez HJ et al.

International Journal of Molecular Sciences, 2022

Envisioning the development of a CRISPR-Cas mediated base editing strategy for a patient with a novel pathogenic CRB1 single nucleotide variant.

Bellingrath JS et al.

Ophthalmic Genetics, 2022

In Silico Analysis of Pathogenic CRB1 Single Nucleotide Variants and Their Amenability to Base Editing as a Potential Lead for Therapeutic Intervention.

Bellingrath JS et al.

Genes, 2021

Application of Whole Exome and Targeted Panel Sequencing in the Clinical Molecular Diagnosis of 319 Chinese Families with Inherited Retinal Dystrophy and Comparison Study.

Wang L et al.

Genes, 2018

30029497 (PubMed )
Supplement: genes-09-00360-s001.zip › TableS1.xlsx › Sheet1
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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."