Varaico: Literature-Extracted Genetic Variants

Gene:EYS
Variant:p.K3128fs
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EYS

NM_001142800.2:p.K3128fs

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

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

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