Associated Papers
From enrichment to interpretation: PS4-driven reclassification in Taiwanese inherited retinal degeneration.
Huang YS et al.
Human Genomics, 2026
Clinical and genetic characterization of REEP6-associated retinopathy in a Japanese cohort.
Tsuboi T et al.
Japanese Journal of Ophthalmology, 2026
Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis.
Panneman DM et al.
Frontiers in Cell and Developmental Biology, 2023
36819107 (PubMed )
Supplement: Table4.xlsx › Results
Genetic characterization of 1210 Japanese pedigrees with inherited retinal diseases by whole-exome sequencing.
Suga A et al.
Human Mutation, 2022
36284460 (PubMed )
Supplement: supplement_1.xlsx › S2-1
Autosomal Recessive Retinitis Pigmentosa Associated with Three Novel REEP6 Variants in Chinese Population.
Zhang L et al.
Genes, 2021
A novel nonsense variant in REEP6 is involved in a sporadic rod-cone dystrophy case.
Méjécase C et al.
Clinical Genetics, 2018
REEP6 mediates trafficking of a subset of Clathrin-coated vesicles and is critical for rod photoreceptor function and survival.
Veleri S et al.
Human Molecular Genetics, 2017
Select a paper to view details