Associated Papers
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
Copy-number variation contributes 9% of pathogenicity in the inherited retinal degenerations.
Zampaglione E et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
32037395 (PubMed )
Supplement: NIHMS1572593-supplement-Supplementary_Tables.xlsx › Table_S2-solutions
Disruption of RPGR protein interaction network is the common feature of RPGR missense variations that cause XLRP.
Zhang Q et al.
Proceedings of the National Academy of Sciences of the United States of America, 2019
Structural and functional plasticity of subcellular tethering, targeting and processing of RPGRIP1 by RPGR isoforms.
Patil H et al.
Biology Open, 2012
Disease course of patients with X-linked retinitis pigmentosa due to RPGR gene mutations.
Sandberg MA et al.
Investigative Ophthalmology & Visual Science, 2007
Mutations of RPGR in X-linked retinitis pigmentosa (RP3).
Vervoort R et al.
Human Mutation, 2002
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