Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.N1055fs
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RPGR

NM_001034853.2:p.N1055fs

Associated Papers

RPGR: Deep Phenotyping and Genetic Characterization With Findings Specific to the 3'-end of ORF15.

Benson MD et al.

Investigative Ophthalmology & Visual Science, 2023

Using single molecule Molecular Inversion Probes as a cost-effective, high-throughput sequencing approach to target all genes and loci associated with macular diseases.

Hitti-Malin RJ et al.

Human Mutation, 2022

36259723 (PubMed )
Supplement: HUMU-43-2234-s006.xlsx › Overview__Class_3-5
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