Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.E1031fs
Back to variants list

RPGR

NM_001034853.2:p.E1031fs

Associated Papers

Variant Profiling of a Large Cohort of 138 Chinese Families With Autosomal Dominant Retinitis Pigmentosa.

Xiao T et al.

Frontiers in Cell and Developmental Biology, 2020

Identification of novel mutations in X-linked retinitis pigmentosa families and implications for diagnostic testing.

Neidhardt J et al.

Molecular Vision, 2008

Genotypic and phenotypic characterisation of RP2- and RPGR-associated X-linked inherited retinal dystrophy, including female manifestations.

Kuruvilla SE et al.

Clinical & Experimental Ophthalmology, 0

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."