Associated Papers
In silico identification of deleterious NT5C2 and PRPS1 mutations driving thiopurine resistance in relapsed acute lymphoblastic leukemia.
Sharma R et al.
Cancer Genetics, 2026
Phosphoribosyl pyrophosphate synthetase 1 (PRPS1) associated retinal degeneration: an international study.
Uner OE et al.
Ophthalmic Genetics, 2025
PRPS1 Gene Mutation Causes Complex X-Linked Adult-Onset Cerebellar Ataxia in Women.
Rezende Filho FM et al.
Neurology. Genetics, 2021
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