Varaico: Literature-Extracted Genetic Variants

Gene:EYS
Variant:p.G3083D
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EYS

NM_001142800.2:p.G3083D

Associated Papers

Clinician-Driven Reanalysis of Exome Sequencing Data From Patients With Inherited Retinal Diseases.

Surl D et al.

Jama Network Open, 2024

38819824 (PubMed )
Supplement: jamanetwopen-e2414198-s001.pdf

Application of targeted panel sequencing and whole exome sequencing for 76 Chinese families with retinitis pigmentosa.

Dan H et al.

Molecular Genetics & Genomic Medicine, 2020

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."