Varaico: Literature-Extracted Genetic Variants

Gene:RPGRIP1
Variant:p.P895_L896del2
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RPGRIP1

NM_020366.4:p.P895_L896del2

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

Whole exome sequencing using Ion Proton system enables reliable genetic diagnosis of inherited retinal dystrophies.

Riera M et al.

Scientific Reports, 2017

Combined genetic and high-throughput strategies for molecular diagnosis of inherited retinal dystrophies.

de Castro-Miró M et al.

Plos One, 2014

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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."