Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.K777delFs
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RPGR

NM_001034853.2:p.K777delFs

Associated Papers

Axial Length Profiles in Inherited Retinal Diseases-A Genotypic and Phenotypic Analysis.

Zhang L et al.

Investigative Ophthalmology & Visual Science, 2025

41117592 (PubMed )
Supplement: iovs-66-13-32_s002.xlsx › Sheet1

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

A novel mutation in retinitis pigmentosa GTPase regulator gene with a distinctive retinitis pigmentosa phenotype in a Chinese family.

Sheng X et al.

Molecular Vision, 2010

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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."