Varaico: Literature-Extracted Genetic Variants

Gene:EYS
Variant:p.N3062_S3063delFs
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EYS

NM_001142800.2:p.N3062_S3063delFs

Associated Papers

Serum anti-recoverin antibodies is found in elderly patients with retinitis pigmentosa and cancer.

Sato T et al.

Acta Ophthalmologica, 2020

Genetic Spectrum of EYS-associated Retinal Disease in a Large Japanese Cohort: Identification of Disease-associated Variants with Relatively High Allele Frequency.

Yang L et al.

Scientific Reports, 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."