Varaico: Literature-Extracted Genetic Variants

Gene:RS1
Variant:p.Y65*
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RS1

NM_000330.4:p.Y65*

Associated Papers

Identifying Multiomic Signatures of X-Linked Retinoschisis-Derived Retinal Organoids and Mice Harboring Patient-Specific Mutation Using Spatiotemporal Single-Cell Transcriptomics.

Chien Y et al.

Advanced Science (weinheim, Baden-wurttemberg, Germany), 2025

Retinoschisin Is Required for Pineal Gland Calcification and Cellular Communication in Pinealocytes of Rats and Mice.

Liu X et al.

Laboratory Investigation; a Journal of Technical Methods and Pathology, 2024

Mouse models of X-linked juvenile retinoschisis have an early onset phenotype, the severity of which varies with genotype.

Liu Y et al.

Human Molecular Genetics, 2019

Boosting activity of high-fidelity CRISPR/Cas9 variants using a tRNAGln-processing system in human cells.

He X et al.

The Journal of Biological Chemistry, 2019

Recapitulating X-Linked Juvenile Retinoschisis in Mouse Model by Knock-In Patient-Specific Novel Mutation.

Chen D et al.

Frontiers in Molecular Neuroscience, 2017

Engineered FnCas12a with enhanced activity through directional evolution in human cells.

Liu X et al.

The Journal of Biological Chemistry, 0

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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."