Varaico: Literature-Extracted Genetic Variants

Gene:PRPS1
Variant:p.S169L
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PRPS1

NM_002764.4:p.S169L

Associated Papers

Case report on a de novo variant in the X-linked PRPS1 gene presenting with retinal dystrophy, severe tremors, and ataxia in a female patient.

Sather RN et al.

Ophthalmic Genetics, 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."