Associated Papers
A Colombian Boy with a Novel de novo PURA Variant: A Case Report.
Sinisterra-Díaz SE et al.
Molecular Syndromology, 2025
First report of PURA syndrome in a Colombian patient with de novo missense variant c.692T>C (p.Phe231Ser)
Cerón SM et al.
Biomedica : Revista Del Instituto Nacional De Salud, 2024
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