Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.S421fs
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RPGR

NM_001034853.2:p.S421fs

Associated Papers

Clinical and genetic landscape of IRD in Portugal: pooled data from the nationwide IRD-PT registry.

Marta A et al.

Npj Genomic Medicine, 2025

39939324 (PubMed )
Supplement: 41525_2025_475_MOESM1_ESM.xlsx › Families

Exploring self-reported visual function and vision-related anxiety in patients with RPGR-associated retinal degeneration.

Gouveia N et al.

Scientific Reports, 2024

38956231 (PubMed )
Supplement: 41598_2024_66170_MOESM1_ESM.pdf

Genetic spectrum, retinal phenotype, and peripapillary RNFL thickness in RPGR heterozygotes.

Marques JP et al.

Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie, 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
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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."