Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.E945*
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RPGR

NM_001034853.2:p.E945*

Associated Papers

Pre-Clinical and Clinical Advances in Gene Therapy of X-Linked Retinitis Pigmentosa: Hope on the Horizon.

Pechnikova NA et al.

Journal of Clinical Medicine, 2025

A novel mutation of RPGR in a Chinese family with X-linked retinitis pigmentosa.

Sun HH et al.

International Journal of Ophthalmology, 2022

Analysis of RPGR gene mutations in 41 Chinese families affected by X-linked inherited retinal dystrophy.

Liu X et al.

Frontiers in Genetics, 2022

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

Novel mutations of RPGR in Chinese families with X-linked retinitis pigmentosa.

Zhang Z et al.

Bmc Ophthalmology, 2019

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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."