Varaico: Literature-Extracted Genetic Variants

Gene:PRPH2
Variant:p.S49R
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PRPH2

NM_000322.5:p.S49R

Associated Papers

Genotype-Phenotype Correlations in PRPH2 Retinopathies: A Comprehensive Analysis of 36 Patients from the Oxford Eye Hospital, UK.

Al-Khuzaei S et al.

Genes, 2025

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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."