Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:EYS

Variant:p.P1859_R1862delFs

Back to variants list

EYS

NM_001142800.2:p.P1859_R1862delFs

hg38:chr6:64590282 CTAGTGAAG>C

Associated Papers

Phototoxicity avoidance is a potential therapeutic approach for retinal dystrophy caused by EYS dysfunction.

Otsuka Y et al.

Jci Insight, 2024

38646933 (PubMed )

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."