Varaico: Literature-Extracted Genetic Variants

Gene:CRB1
Variant:p.C183R
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CRB1

NM_201253.3:p.C183R

Associated Papers

GenTIGS: a database empowering research and clinical insights on rare genetic disorders with an Indian perspective.

Rashid I et al.

Nar Genomics and Bioinformatics, 2025

41229399 (PubMed )
Supplement: lqaf143_supplemental_file.xls › Conflicting_Pathogenicity_

Long-Range PCR-Based NGS Applications to Diagnose Mendelian Retinal Diseases.

Maggi J et al.

International Journal of Molecular Sciences, 2021

Next generation sequencing based identification of disease-associated mutations in Swiss patients with retinal dystrophies.

Tiwari A et al.

Scientific Reports, 2016

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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."