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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CRB1

Variant:p.L524P

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CRB1

NM_201253.3:p.L524P

hg38:chr1:197421399 T>C

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

41358656 (PubMed )

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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."