Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.S71*
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RPGR

NM_001034853.2:p.S71*

Associated Papers

Advances in RPGR gene therapy for X‑linked retinitis pigmentosa: From preclinical insights to clinical application (Review).

Long Y et al.

International Journal of Molecular Medicine, 2026

Female carrier of RPGR mutation presenting with high myopia.

Seliniotaki AK et al.

Ophthalmic Genetics, 2024

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

Phenotypic high myopia in X-linked retinitis pigmentosa secondary to a novel mutation in the RPGR gene.

Sanchez Tocino H et al.

Ophthalmic Genetics, 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."