Associated Papers
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
Novel REEP6 gene mutation associated with autosomal recessive retinitis pigmentosa.
Lin Y et al.
Documenta Ophthalmologica. Advances in Ophthalmology, 2020
A novel nonsense variant in REEP6 is involved in a sporadic rod-cone dystrophy case.
Méjécase C et al.
Clinical Genetics, 2018
Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa.
Arno G et al.
American Journal of Human Genetics, 2016
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