Varaico: Literature-Extracted Genetic Variants

Gene:NUP214
Variant:p.K15_D16Splc
Back to variants list

NUP214

NM_005085.4:p.K15_D16Splc

Associated Papers

Novel NR2E3 mutations (R104Q, R334G) associated with a mild form of enhanced S-cone syndrome demonstrate compound heterozygosity.

Hayashi T et al.

Ophthalmology, 2005

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."