Varaico: Literature-Extracted Genetic Variants

Gene:REEP6
Variant:p.E99K
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REEP6

NM_138393.4:p.E99K

Associated Papers

Autosomal Recessive Retinitis Pigmentosa Associated with Three Novel REEP6 Variants in Chinese Population.

Zhang L et al.

Genes, 2021

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

Disease asymmetry and hyperautofluorescent ring shape in retinitis pigmentosa patients.

Jauregui R et al.

Scientific Reports, 2020

32098976 (PubMed )
Supplement: 41598_2020_60137_MOESM1_ESM.pdf

Novel REEP6 gene mutation associated with autosomal recessive retinitis pigmentosa.

Lin Y et al.

Documenta Ophthalmologica. Advances in Ophthalmology, 2020

Multimodal structural disease progression of retinitis pigmentosa according to mode of inheritance.

Jauregui R et al.

Scientific Reports, 2019

31341231 (PubMed )
Supplement: 41598_2019_47251_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."