Varaico: Literature-Extracted Genetic Variants

Gene:EYS
Variant:p.S1341delFs
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EYS

NM_001142800.2:p.S1341delFs

Associated Papers

Genetic characterization of 1210 Japanese pedigrees with inherited retinal diseases by whole-exome sequencing.

Suga A et al.

Human Mutation, 2022

36284460 (PubMed )
Supplement: supplement_1.xlsx › S2-1

Multiregional Sequencing of IDH-WT Glioblastoma Reveals High Genetic Heterogeneity and a Dynamic Evolutionary History.

Franceschi S et al.

Cancers, 2021

33922652 (PubMed )
Supplement: cancers-13-02044-s001.zip › Supplementary_Table_S3.xlsx › Supplementary_Table_S3

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

Whole exome analysis identifies frequent CNGA1 mutations in Japanese population with autosomal recessive retinitis pigmentosa.

Katagiri S et al.

Plos One, 2014

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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."