Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.G816_E821del0
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RPGR

NM_001034853.2:p.G816_E821del0

Associated Papers

INHERITED RETINAL DISEASE GENE PANEL IN POSTERIOR OR PANUVEITIS WITH DYSTROPHIC FEATURES.

Abramowicz S et al.

Retina (philadelphia, Pa.), 2025

Genotype-Phenotype Analysis of RPGR Variations: Reporting of 62 Chinese Families and a Literature Review.

Yang J et al.

Frontiers in Genetics, 2021

Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

Jespersgaard C et al.

Scientific Reports, 2019

30718709 (PubMed )
Supplement: 41598_2018_38007_MOESM2_ESM.xlsx › Ark1

Improved Diagnosis of Inherited Retinal Dystrophies by High-Fidelity PCR of ORF15 followed by Next-Generation Sequencing.

Li J et al.

The Journal of Molecular Diagnostics : Jmd, 2016

Exome sequencing of 47 chinese families with cone-rod dystrophy: mutations in 25 known causative genes.

Huang L et al.

Plos One, 2013

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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."