Varaico: Literature-Extracted Genetic Variants

Gene:REEP6
Variant:p.A150delFs
Back to variants list

REEP6

NM_138393.4:p.A150delFs

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

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

Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa.

Arno G et al.

American Journal of Human Genetics, 2016

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."