Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.R745fs
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RPGR

NM_001034853.2:p.R745fs

Associated Papers

Whole-exome sequencing screening for candidate genes and potential pathogenic variants associated with early-onset high myopia in 47 Chinese families.

Rui X et al.

Scientific Reports, 2025

Mutations in RPGR and RP2 account for 15% of males with simplex retinal degenerative disease.

Branham K et al.

Investigative Ophthalmology & Visual Science, 2012

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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."