Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.Q467*
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RPGR

NM_001034853.2:p.Q467*

Associated Papers

Retinal Disease Variability in Female Carriers of RPGR Variants Associated with Retinitis Pigmentosa: Clinical and Genetic Parameters.

Gocuk SA et al.

Genes, 2025

40004550 (PubMed )
Supplement: genes-16-00221-s001.zip › Supplementary_Table_S2_detailed_demographics_Clean_Tracked.pdf

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

Application of Whole Exome and Targeted Panel Sequencing in the Clinical Molecular Diagnosis of 319 Chinese Families with Inherited Retinal Dystrophy and Comparison Study.

Wang L et al.

Genes, 2018

30029497 (PubMed )
Supplement: genes-09-00360-s001.zip › TableS1.xlsx › Sheet1

Mutation- and tissue-specific alterations of RPGR transcripts.

Schmid F et al.

Investigative Ophthalmology & Visual Science, 2010

A population-based epidemiological and genetic study of X-linked retinitis pigmentosa.

Prokisch H et al.

Investigative Ophthalmology & Visual Science, 2007

Genotype-phenotype correlation in X-linked retinitis pigmentosa 2 (RP2).

Rosenberg T et al.

Ophthalmic Genetics, 1999

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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."