Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:EYS

Variant:p.D2142Splc

Back to variants list

EYS

NM_001142800.2:p.D2142Splc

hg38:chr6:64230591 C>T

Associated Papers

Hidden Splicing Variants in Inherited Retinal Degeneration: Discovery and Functional Insight.

Huang YS et al.

Investigative Ophthalmology & Visual Science, 2025

41060150 (PubMed )

Supplement: iovs-66-13-12_s002.xlsx › Table_S4-diagnosed_cases

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."