Varaico: Literature-Extracted Genetic Variants

Gene:CAT
Variant:p.H166_K169del0
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CAT

NM_001752.4:p.H166_K169del0

Associated Papers

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

Rodriguez-Martinez AC et al.

Translational Vision Science & Technology, 2024

Clinical and Therapeutic Evaluation of the Ten Most Prevalent CRB1 Mutations.

Lopes da Costa B et al.

Biomedicines, 2023

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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."