Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.Q1112*
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RPGR

NM_001034853.2:p.Q1112*

Associated Papers

Clinical Exome Sequencing: A Genetic Diagnostic Approach for Inherited Retinal Dystrophies.

Barberán-Martínez P et al.

The Journal of Molecular Diagnostics : Jmd, 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

Retrospective Natural History Study of RPGR-Related Cone- and Cone-Rod Dystrophies While Expanding the Mutation Spectrum of the Disease.

Nassisi M et al.

International Journal of Molecular Sciences, 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."