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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CBR1

Variant:p.E166_V169del0

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CBR1

NM_001757.4:p.E166_V169del0

hg38:chr21:36072545 AGGAGCTGGT>A

Associated Papers

OUTER RETINAL COLUMNAR ABNORMALITIES: A Novel Optical Coherence Tomography Sign of CRB1 Maculopathy?

Grimaldi G et al.

Retina (philadelphia, Pa.), 2024

39089008 (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."