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De novo loss‐of‐function variant in PTDSS1 is associated wi..:

Gracie, Sara ; Sengupta, Nivedita ; Ferreira, Carlos...
American Journal of Medical Genetics Part A.  188 (2022)  6 - p. 1739-1745 , 2022
Link: https://doi.org/10.1002/ajmg.a.62695