Varaico: Literature-Extracted Genetic Variants

Gene:EYS
Variant:p.W2090*
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EYS

NM_001142800.2:p.W2090*

Associated Papers

Clinical Characteristics and Genetic Variants of a Large Cohort of Patients with Retinitis Pigmentosa Using Multimodal Imaging and Next Generation Sequencing.

Sather R et al.

International Journal of Molecular Sciences, 2023

37446072 (PubMed )
Supplement: ijms-24-10895-s001.zip › ijms-2370890-supplementary.pdf

Genotype Profile of Global EYS-Associated Inherited Retinal Dystrophy and Clinical Findings in a Large Chinese Cohort.

Xu K et al.

Frontiers in Cell and Developmental Biology, 2021

34178978 (PubMed )
Supplement: Table_2.XLSX › Sheet1

Prevalence of mutations in inherited retinal diseases: A comparison between the United States and India.

Yohe S et al.

Molecular Genetics & Genomic Medicine, 2020

31816670 (PubMed )
Supplement: MGG3-8-e1081-s001.xlsx › RD_Panel

Discovery of rare ancestry-specific variants in the fetal genome that confer risk of preterm premature rupture of membranes (PPROM) and preterm birth.

Modi BP et al.

Bmc Medical Genetics, 2018

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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."