Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.E732delFs
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RPGR

NM_001034853.2:p.E732delFs

Associated Papers

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

Disease asymmetry and hyperautofluorescent ring shape in retinitis pigmentosa patients.

Jauregui R et al.

Scientific Reports, 2020

32098976 (PubMed )
Supplement: 41598_2020_60137_MOESM1_ESM.pdf

Fundoscopy-directed genetic testing to re-evaluate negative whole exome sequencing results.

Cho A et al.

Orphanet Journal of Rare Diseases, 2020

Multimodal structural disease progression of retinitis pigmentosa according to mode of inheritance.

Jauregui R et al.

Scientific Reports, 2019

31341231 (PubMed )
Supplement: 41598_2019_47251_MOESM1_ESM.pdf

Multimodal Imaging of Central Retinal Disease Progression in a 2-Year Mean Follow-up of Retinitis Pigmentosa.

Sujirakul T et al.

American Journal of Ophthalmology, 2015

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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."