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HARVARD Citation
Porrmann, J. et al. (2017). Novel PRPS1 gain‐of‐function mutation in a patient with congenital hyperuricemia and facial anomalies. American journal of medical genetics. 173 (10), pp. 2736-2742. [Online].
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Porrmann, J. et al. (2017). Novel PRPS1 gain‐of‐function mutation in a patient with congenital hyperuricemia and facial anomalies. American journal of medical genetics. 173 (10), pp. 2736-2742. [Online].