Varaico: Literature-Extracted Genetic Variants

Gene:PRPH2
Variant:p.S212R
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PRPH2

NM_000322.5:p.S212R

Associated Papers

Panel-Based Genetic Testing in a Consecutive Series of Individuals with Inherited Retinal Diseases in Australia: Identifying Predictors of a Diagnosis.

Britten-Jones AC et al.

Genes, 2025

40869936 (PubMed )
Supplement: genes-16-00888-s001.zip › genes-3753886-Supplemental_materials.pdf

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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