Fig. 3From: The recurrent SETBP1 c.2608G > A, p.(Gly870Ser) variant in a patient with Schinzel-Giedion syndrome: an illustrative case of the utility of whole exome sequencing in a critically ill neonateSchematic representation of the SETBP1 with positions of all known deleterious variants published to date and include the present oneBack to article page