Varaico: Literature-Extracted Genetic Variants

Gene:EYS
Variant:p.L1552*
Back to variants list

EYS

NM_001142800.2:p.L1552*

Associated Papers

Systematic assessment of the contribution of structural variants to inherited retinal diseases.

Wen S et al.

Human Molecular Genetics, 2023

Systematic assessment of the contribution of structural variants to inherited retinal diseases.

Wen S et al.

Biorxiv : the Preprint Server for Biology, 2023

Genotypic spectrum and phenotype correlations of EYS-associated disease in a Chinese cohort.

Gao FJ et al.

Eye (london, England), 2022

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
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."