Associated Papers
Clinical and genetic characterization of REEP6-associated retinopathy in a Japanese cohort.
Tsuboi T et al.
Japanese Journal of Ophthalmology, 2026
Autosomal Recessive Retinitis Pigmentosa Associated with Three Novel REEP6 Variants in Chinese Population.
Zhang L et al.
Genes, 2021
Application of CRISPR Tools for Variant Interpretation and Disease Modeling in Inherited Retinal Dystrophies.
Fuster-García C et al.
Genes, 2020
Gene Therapy Rescues Retinal Degeneration in Receptor Expression-Enhancing Protein 6 Mutant Mice.
Zaneveld SA et al.
Human Gene Therapy, 2019
A novel nonsense variant in REEP6 is involved in a sporadic rod-cone dystrophy case.
Méjécase C et al.
Clinical Genetics, 2018
REEP6 deficiency leads to retinal degeneration through disruption of ER homeostasis and protein trafficking.
Agrawal SA et al.
Human Molecular Genetics, 2017
Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa.
Arno G et al.
American Journal of Human Genetics, 2016
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