Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.K681fs
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RPGR

NM_001034853.2:p.K681fs

Associated Papers

Long-read Sequencing in Inherited Retinal Dystrophies: A Systematic Review.

Ibrahim M et al.

Ophthalmology Science, 2026

Long-Read Nanopore Sequencing of RPGR ORF15 is Enhanced Following DNase I Treatment of MinION Flow Cells.

Yahya S et al.

Molecular Diagnosis & Therapy, 2023

Prevalence of RPGR-Mediated Retinal Dystrophy in an Unselected Cohort of Over 5000 Patients.

Tuupanen S et al.

Translational Vision Science & Technology, 2022

34985506 (PubMed )
Supplement: tvst-11-1-6_s001.pdf
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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."