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De novo loss-of-function variant in PTDSS1 is associated with developmental delay.

Gracie S, Sengupta N, Ferreira C, Pemberton J, Anderson I, Wang X, Rhodes L, Brown K, Balla T, Larson A. De novo loss-of-function variant in PTDSS1 is associated with developmental delay. Am J Med Genet A. 2022 06; 188(6):1739-1745.

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