Varaico: Literature-Extracted Genetic Variants

Gene:PROM1
Variant:p.N566K
Back to variants list

PROM1

NM_006017.3:p.N566K

Associated Papers

Compound heterozygous novel frameshift variants in the PROM1 gene result in Leber congenital amaurosis.

Ragi SD et al.

Cold Spring Harbor Molecular Case Studies, 2019

Identification of novel PROM1 mutations responsible for autosomal recessive maculopathy with rod-cone dystrophy.

Liang J et al.

Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie, 2019

An intronic deletion in the PROM1 gene leads to autosomal recessive cone-rod dystrophy.

Eidinger O et al.

Molecular Vision, 2015

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."