Varaico: Literature-Extracted Genetic Variants

Gene:PRPS1
Variant:p.Q57H
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PRPS1

NM_002764.4:p.Q57H

Associated Papers

Phosphoribosyl pyrophosphate synthetase 1 (PRPS1) associated retinal degeneration: an international study.

Uner OE et al.

Ophthalmic Genetics, 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."