Varaico: Literature-Extracted Genetic Variants

Gene:EYS
Variant:p.I1698T
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EYS

NM_001142800.2:p.I1698T

Associated Papers

EYS mutation update: In silico assessment of 271 reported and 26 novel variants in patients with retinitis pigmentosa.

Messchaert M et al.

Human Mutation, 2018

Targeted next-generation sequencing extends the phenotypic and mutational spectrums for EYS mutations.

Gu S et al.

Molecular Vision, 2016

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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."