Varaico: Literature-Extracted Genetic Variants

Gene:DCTN3
Variant:p.E90Splc
Back to variants list

DCTN3

NM_007234.5:p.E90Splc

Associated Papers

Newfoundland rod-cone dystrophy, an early-onset retinal dystrophy, is caused by splice-junction mutations in RLBP1.

Eichers ER et al.

American Journal of Human Genetics, 2002

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."