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
Cellular imaging demonstrates genetic mosaicism in heterozygous carriers of an X-linked ciliopathy gene.
Pyo Park S et al.
European Journal of Human Genetics : Ejhg, 2013
Evaluation of multimodal imaging in carriers of X-linked retinitis pigmentosa.
Acton JH et al.
Experimental Eye Research, 2013
Comprehensive survey of mutations in RP2 and RPGR in patients affected with distinct retinal dystrophies: genotype-phenotype correlations and impact on genetic counseling.
Pelletier V et al.
Human Mutation, 2007
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