Varaico: Literature-Extracted Genetic Variants

Gene:EYS
Variant:p.N2182fs
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EYS

NM_001142800.2:p.N2182fs

Associated Papers

Screening of Inherited Retinal Disease Patients in a Low-Resource Setting Using an Augmented Next-Generation Sequencing Panel.

Midgley N et al.

Molecular Genetics & Genomic Medicine, 2024

39676705 (PubMed )
Supplement: MGG3-12-e70046-s001.xlsx › Supplementary_Table_3

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
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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."