Varaico: Literature-Extracted Genetic Variants

Gene:EYS
Variant:p.C685*
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EYS

NM_001142800.2:p.C685*

Associated Papers

Whole-Exome Analysis for Polish Caucasian Patients with Retinal Dystrophies and the Creation of a Reference Genomic Database for the Polish Population.

Matczyńska E et al.

Genes, 2024

Rod and Cone Function Measured Objectively by Chromatic Pupil Campimetry Show a Different Preservation Between Distinct Genotypes in Retinitis Pigmentosa.

Kelbsch C et al.

Investigative Ophthalmology & Visual Science, 2023

37578425 (PubMed )
Supplement: iovs-64-11-18_s001.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."