De novo missense variants in the RPEL3 domain of PHACTR4 in individuals with overlapping congenital anomalies
Titel:
De novo missense variants in the RPEL3 domain of PHACTR4 in individuals with overlapping congenital anomalies
Auteur:
Torti, Erin Mullegama, Sureni V. De Bie, Isabelle Mercier, Angelique Carere, Deanna Alexis Folk, Leandra Juusola, Jane Monaghan, Kristin G. Wentzensen, Ingrid M. Redlich, Olivia L. Reich, Adi McGivern, Bobbi