Varaico: Literature-Extracted Genetic Variants

Gene:PRPS1
Variant:p.K102_S103Splc
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PRPS1

NM_002764.4:p.K102_S103Splc

Associated Papers

The Undiagnosed Diseases Network (UDN) Solves Ocular Syndromic Diagnostic Dilemmas.

Tinker RJ et al.

American Journal of Ophthalmology, 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."