Varaico: Literature-Extracted Genetic Variants

Gene:CRB1
Variant:p.S478fs
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CRB1

NM_201253.3:p.S478fs

Associated Papers

Elevated Visual Crowding in CRB1-Associated Retinopathies: Understanding Functional Visual Deficits Using Child-Friendly Computerized Testing.

Rodriguez-Martinez AC et al.

Investigative Ophthalmology & Visual Science, 2025

Assessing Contrast Sensitivity Function in CRB1-Retinopathies: Exploring Child-Friendly Measures of Visual Function.

Rodriguez-Martinez AC et al.

Translational Vision Science & Technology, 2024

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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."