Varaico: Literature-Extracted Genetic Variants

Gene:EYS
Variant:p.L1723delFs
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EYS

NM_001142800.2:p.L1723delFs

Associated Papers

Extending the Spectrum of EYS-Associated Retinal Disease to Macular Dystrophy.

Pierrache LHM et al.

Investigative Ophthalmology & Visual Science, 2019

Diagnostic exome sequencing in 266 Dutch patients with visual impairment.

Haer-Wigman L et al.

European Journal of Human Genetics : Ejhg, 2017

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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."