Varaico: Literature-Extracted Genetic Variants

Gene:RP1
Variant:p.P124fs
Back to variants list

RP1

NM_006269.2:p.P124fs

Associated Papers

Diagnostic exome sequencing in 266 Dutch patients with visual impairment.

Haer-Wigman L et al.

European Journal of Human Genetics : Ejhg, 2017

Retinal Dystrophy in 6 Young Patients Who Presented with Intermediate Uveitis.

Hettinga YM et al.

Ophthalmology, 2016

Next-generation genetic testing for retinitis pigmentosa.

Neveling K et al.

Human Mutation, 2012

22334370 (PubMed )
Supplement: humu0033-0963-sd1.pdf

Inherited retinal disease-associated uveitis.

Hung JH et al.

Survey of 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."