Varaico: Literature-Extracted Genetic Variants

Gene:RB1
Variant:p.L694delFs
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RB1

NM_000321.3:p.L694delFs

Associated Papers

Retinal Organoids from Induced Pluripotent Stem Cells of Patients with Inherited Retinal Diseases: A Systematic Review.

Lee YJ et al.

Stem Cell Reviews and Reports, 2025

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

Watson A et al.

Journal of Anatomy, 2023

pRB-Depleted Pluripotent Stem Cell Retinal Organoids Recapitulate Cell State Transitions of Retinoblastoma Development and Suggest an Important Role for pRB in Retinal Cell Differentiation.

Rozanska A et al.

Stem Cells Translational Medicine, 2022

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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."