Varaico: Literature-Extracted Genetic Variants

Gene:REEP6
Variant:p.L94delFs
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REEP6

NM_138393.4:p.L94delFs

Associated Papers

Clinical and genetic characterization of REEP6-associated retinopathy in a Japanese cohort.

Tsuboi T et al.

Japanese Journal of Ophthalmology, 2026

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

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_MOESM1_ESM.xlsx › Sheet1

EYS is a major gene involved in retinitis pigmentosa in Japan: genetic landscapes revealed by stepwise genetic screening.

Numa S et al.

Scientific Reports, 2020

33247286 (PubMed )
Supplement: 41598_2020_77558_MOESM1_ESM.pdf
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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."