Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.R780_A781delFs
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RPGR

NM_001034853.2:p.R780_A781delFs

Associated Papers

Age-Stratified Genetic Spectrum of Retinitis Pigmentosa in Korean Patients: Predominance of RPGR Variants in Early-Onset Disease.

Hong YJ et al.

Annals of Laboratory Medicine, 2025

41457516 (PubMed )
Supplement: alm-46-2-200-supple.pdf

Retinitis Pigmentosa GTPase Regulator-Associated X-Linked Retinitis Pigmentosa: Molecular Genetics and Clinical Characteristics.

Hwang S et al.

American Journal of Ophthalmology, 2025

7 Tesla MRI Reveals Brain Structural Abnormalities and Neural Plasticity in RPGR-Related Retinitis Pigmentosa.

Nowomiejska K et al.

Journal of Clinical Medicine, 2025

Clinical and molecular findings in children with retinitis pigmentosa.

Li C et al.

Ophthalmic Genetics, 2024

Identification of the RPGR Gene Pathogenic Variants in a Cohort of Polish Male Patients with Retinitis Pigmentosa Phenotype.

Nowomiejska K et al.

Genes, 2023

Molecular Re-Diagnosis with Whole-Exome Sequencing Increases the Diagnostic Yield in Patients with Non-Syndromic Retinitis Pigmentosa.

Wawrocka A et al.

Diagnostics (basel, Switzerland), 2023

Genetic Characteristics and Long-Term Follow-Up of Slovenian Patients with RPGR Retinal Dystrophy.

Hadalin V et al.

International Journal of Molecular Sciences, 2023

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

Identification of novel mutations in X-linked retinitis pigmentosa families and implications for diagnostic testing.

Neidhardt J et al.

Molecular Vision, 2008

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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."