Varaico: Literature-Extracted Genetic Variants

Gene:PRPH
Variant:p.R216C
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PRPH

NM_006262.4:p.R216C

Associated Papers

High prevalence of PRPH2 in autosomal dominant retinitis pigmentosa in france and characterization of biochemical and clinical features.

Manes G et al.

American Journal of Ophthalmology, 2015

Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies.

Sohocki MM et al.

Human Mutation, 2001

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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."