Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.D744fs
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RPGR

NM_001034853.2:p.D744fs

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

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

Spectrum of Disease Severity in Patients With X-Linked Retinitis Pigmentosa Due to RPGR Mutations.

Di Iorio V et al.

Investigative Ophthalmology & Visual Science, 2020

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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."