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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RPE65

Variant:p.L372_D375delFs

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RPE65

NM_000329.3:p.L372_D375delFs

hg38:chr1:68438189 TGTCAATATTCA>T

Associated Papers

Alternative Splicing Dysregulation in Retinitis Pigmentosa: Pathogenic Mechanisms and Therapeutic Opportunities.

Jiang Y et al.

Biomolecules, 2025

41301541 (PubMed )

Retinal organoids provide unique insights into molecular signatures of inherited retinal disease throughout retinogenesis.

Watson A et al.

Journal of Anatomy, 2023

36177499 (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."