Varaico: Literature-Extracted Genetic Variants

Gene:RPGRIP1
Variant:p.D1203delFs
Back to variants list

RPGRIP1

NM_020366.4:p.D1203delFs

Associated Papers

Retinal Degeneration Associated With RPGRIP1: A Review of Natural History, Mutation Spectrum, and Genotype-Phenotype Correlation in 228 Patients.

Beryozkin A et al.

Frontiers in Cell and Developmental Biology, 2021

34722527 (PubMed )
Supplement: Table_2.XLSX › ______1

[Databases for mutations in human diseases].

Minoshima S et al.

Nihon Rinsho. Japanese Journal of Clinical Medicine, 2010

KMeyeDB: a graphical database of mutations in genes that cause eye diseases.

Kawamura T et al.

Human Mutation, 2010

RPGRIP1 is mutated in Leber congenital amaurosis: a mini-review.

Koenekoop RK

Ophthalmic Genetics, 2005

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."