Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.E607K
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RPGR

NM_001034853.2:p.E607K

Associated Papers

Clinical Spectrum and Molecular Characteristics of Inherited Ocular Diseases in a Cohort of Pediatric Patients With Infantile Nystagmus Syndrome.

Gong X et al.

Investigative Ophthalmology & Visual Science, 2025

40232708 (PubMed )
Supplement: iovs-66-4-39_s001.pdf

Generation and characterization of new highly thermostable and processive M-MuLV reverse transcriptase variants.

Baranauskas A et al.

Protein Engineering, Design & Selection : Peds, 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."