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A Novel DPH5-related Diphthamide-Deficiency Syndrome Causing Embryonic Lethality or Profound Neurodevelopmental Disorder (vol 24, Pg 1567, 2022)

Suma P. Shankar,Kristin Grimsrud,Louise Lanoue,Alena Egense,Brandon Willis,Johanna Horberg,Lama Al Abdi,Klaus Mayer,Koray Utkur,Kristin G. Monaghan,Joel Krier,Joan Stoler,Maha Alnemer,Prabhu R. Shankar,Raffael Schaffrath,Fowzan S. Alkuraya,Ulrich Brinkmann,Leif A. Eriksson,Kent Lloyd,Katherine A. Rauen

GENETICS IN MEDICINE（2022）

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