Associated Papers
Whole-exome sequencing in 168 Korean patients with inherited retinal degeneration.
Ma DJ et al.
Bmc Medical Genomics, 2021
33691693 (PubMed )
Supplement: 12920_2021_874_MOESM2_ESM.xlsx › Sheet1
Variability in Gene Expression is Associated with Incomplete Penetrance in Inherited Eye Disorders.
Green DJ et al.
Genes, 2020
32050448 (PubMed )
Supplement: genes-11-00179-s001.zip › Supplementary_File_3.xlsx › gnomAD_overlap_autosomal
Novel mutations in PDE6B causing human retinitis pigmentosa.
Cheng LL et al.
International Journal of Ophthalmology, 2016
Microarray-based mutation detection and phenotypic characterization in Korean patients with retinitis pigmentosa.
Kim C et al.
Molecular Vision, 2012
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