Varaico: Literature-Extracted Genetic Variants

Gene:LRAT
Variant:p.E114E
Back to variants list

LRAT

NM_004744.5:p.E114E

Associated Papers

Low prevalence of lecithin retinol acyltransferase mutations in patients with Leber congenital amaurosis and autosomal recessive retinitis pigmentosa.

Sweeney MO et al.

Molecular Vision, 2007

Screening genes of the retinoid metabolism: novel LRAT mutation in leber congenital amaurosis.

Sénéchal A et al.

American Journal of Ophthalmology, 2006

Mutations in the gene encoding lecithin retinol acyltransferase are associated with early-onset severe retinal dystrophy.

Thompson DA et al.

Nature Genetics, 2001

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."