Varaico: Literature-Extracted Genetic Variants

Gene:OPTN
Variant:p.N51T
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OPTN

NM_001008212.2:p.N51T

Associated Papers

Precise Generation of Human Induced Pluripotent Stem Cell-derived Cell Lines Harboring Disease-relevant Single Nucleotide Variants Using a Prime Editing System.

Kanno S et al.

Bio-protocol, 2025

Identification of OPTN p.(Asn51Thr): A novel pathogenic variant in primary open-angle glaucoma.

Shiga Y et al.

Genetics in Medicine Open, 2024

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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."