Varaico: Literature-Extracted Genetic Variants

Gene:RP2
Variant:p.N173N
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RP2

NM_006915.3:p.N173N

Associated Papers

Modeling Retinitis Pigmentosa with Patient-Derived iPSCs.

Leong YC et al.

Advances in Experimental Medicine and Biology, 2023

Limitations and Promise of Retinal Tissue From Human Pluripotent Stem Cells for Developing Therapies of Blindness.

Singh RK et al.

Frontiers in Cellular Neuroscience, 2020

Pluripotent Stem Cells to Model Degenerative Retinal Diseases: The RPE Perspective.

Dalvi S et al.

Advances in Experimental Medicine and Biology, 2019

Arl3 and RP2 regulate the trafficking of ciliary tip kinesins.

Schwarz N et al.

Human Molecular Genetics, 2017

Translational read-through of the RP2 Arg120stop mutation in patient iPSC-derived retinal pigment epithelium cells.

Schwarz N et al.

Human Molecular Genetics, 2015

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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."