Varaico: Literature-Extracted Genetic Variants

Gene:PRPH2
Variant:p.S218W
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PRPH2

NM_000322.5:p.S218W

Associated Papers

Expanding Genetic and Clinical Spectra of Inherited Retinal Dystrophies: Identification of Three Novel PRPH2 Variants.

Cascella R et al.

Biomedicines, 2025

Retinal Dystrophies Associated With Peripherin-2: Genetic Spectrum and Novel Clinical Observations in 241 Patients.

Heath Jeffery RC et al.

Investigative Ophthalmology & Visual Science, 2024

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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."