Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.E848fs
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RPGR

NM_001034853.2:p.E848fs

Associated Papers

Nationwide genetic analysis of more than 600 families with inherited eye diseases in Argentina.

Schlottmann PG et al.

Npj Genomic Medicine, 2023

Genotype-Phenotype Analysis of RPGR Variations: Reporting of 62 Chinese Families and a Literature Review.

Yang J et al.

Frontiers in Genetics, 2021

34745198 (PubMed )
Supplement: Table_1.XLSX › Sheet1

Lessons learned from family history in ocular genetics.

Marino MJ

Current Opinion in Ophthalmology, 2015

Severe retinal degeneration in women with a c.2543del mutation in ORF15 of the RPGR gene.

Kousal B et al.

Molecular Vision, 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."