Fig. 2From: A novel mutation of the RPGRIP1L gene in a Chinese boy with Joubert syndrome with oculorenal involvementIdentification and characterization of RPGRIP1L variants. A Sanger sequencing confirmed the compound heterozygous mutation of the RPGRIP1L gene of the proband inherited from the father and mother. B Conservation prediction plots of c.2723G > T (p.G908V). C Predicted three-dimensional models of wild-type and mutant (p.G908V) RPGRIP1LBack to article page