Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.E973_E980ins2
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RPGR

NM_001034853.2:p.E973_E980ins2

Associated Papers

Validation of Nanopore long-read sequencing to resolve RPGR ORF15 genotypes in individuals with X-linked retinitis pigmentosa.

Vaché C et al.

European Journal of Human Genetics : Ejhg, 2025

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

De Novo Assembly-Based Analysis of RPGR Exon ORF15 in an Indigenous African Cohort Overcomes Limitations of a Standard Next-Generation Sequencing (NGS) Data Analysis Pipeline.

Maggi J et al.

Genes, 2020

Clinical and genetic characteristics of 251 consecutive patients with macular and cone/cone-rod dystrophy.

Birtel J et al.

Scientific Reports, 2018

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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."