Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.Q725*
Back to variants list

RPGR

NM_001034853.2:p.Q725*

Associated Papers

Retinitis Pigmentosa GTPase Regulator-Associated X-Linked Retinitis Pigmentosa: Molecular Genetics and Clinical Characteristics.

Hwang S et al.

American Journal of Ophthalmology, 2025

Clinical Exome-Based Redefinition and Reclassification of Retinitis Pigmentosa.

Park HS et al.

Journal of Korean Medical Science, 2025

40296824 (PubMed )
Supplement: jkms-40-e54-s001.xls › causative_variants_by_patientno

Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy.

Karali M et al.

Scientific Reports, 2022

36460718 (PubMed )
Supplement: 41598_2022_24636_MOESM2_ESM.xlsx › Supplementary_Table_S1

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
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."