Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.S1107fs
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RPGR

NM_001034853.2:p.S1107fs

Associated Papers

Frequency and Genetic Spectrum of Inherited Retinal Dystrophies in a Large Dutch Pediatric Cohort: The RD5000 Consortium.

Heutinck PAT et al.

Investigative Ophthalmology & Visual Science, 2024

39189993 (PubMed )
Supplement: iovs-65-10-40_s001.xlsx › Sheet1

Whole exome sequencing of known eye genes reveals genetic causes for high myopia.

Haarman AEG et al.

Human Molecular Genetics, 2022

35567543 (PubMed )
Supplement: supplemental_table_1_ddac113.xlsx › Sheet1

RPGR ORF15 genotype and clinical variability of retinal degeneration in an Australian population.

Ruddle JB et al.

The British Journal of Ophthalmology, 2009

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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."