Varaico: Literature-Extracted Genetic Variants

Gene:PFAS
Variant:p.S230del1
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PFAS

NM_012393.3:p.S230del1

Associated Papers

Phosphoribosylformylglycinamidine Synthase (PFAS) Deficiency: Clinical, Genetic and Metabolic Characterisation of a Novel Defect in Purine de Novo Synthesis.

Zikanova M et al.

Journal of Inherited Metabolic Disease, 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."