Varaico: Literature-Extracted Genetic Variants

Gene:EYS
Variant:p.K3128_L3129delFs
Back to variants list

EYS

NM_001142800.2:p.K3128_L3129delFs

Associated Papers

EYS-Associated Sector Retinitis Pigmentosa.

Marques JP et al.

Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie, 2022

"Genetic and clinical findings in an ethnically diverse retinitis pigmentosa cohort associated with pathogenic variants in EYS".

Cundy O et al.

Eye (london, England), 2021

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

Fundus phenotype in retinitis pigmentosa associated with EYS mutations.

Mucciolo DP et al.

Ophthalmic Genetics, 2018

A Distinct Phenotype of Eyes Shut Homolog (EYS)-Retinitis Pigmentosa Is Associated With Variants Near the C-Terminus.

Sengillo JD et al.

American Journal of Ophthalmology, 2018

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."