Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.E788_E789delFs
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RPGR

NM_001034853.2:p.E788_E789delFs

Associated Papers

Retinal Disease Variability in Female Carriers of RPGR Variants Associated with Retinitis Pigmentosa: Clinical and Genetic Parameters.

Gocuk SA et al.

Genes, 2025

40004550 (PubMed )
Supplement: genes-16-00221-s001.zip › Supplementary_Table_S2_detailed_demographics_Clean_Tracked.pdf

Measuring X-Chromosome inactivation skew for X-linked diseases with adaptive nanopore sequencing.

Gocuk SA et al.

Genome Research, 2024

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

Yang J et al.

Frontiers in Genetics, 2021

34745198 (PubMed )
Supplement: Table_1.XLSX › Sheet1

CLINICAL AND GENETIC CHARACTERISTICS OF MALE PATIENTS WITH RPGR-ASSOCIATED RETINAL DYSTROPHIES: A Long-Term Follow-up Study.

Talib M et al.

Retina (philadelphia, Pa.), 2019

Development of High-Throughput Clinical Testing of RPGR ORF15 Using a Large Inherited Retinal Dystrophy Cohort.

Chiang JPW et al.

Investigative Ophthalmology & Visual Science, 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."