Fig. 1From: Exome sequencing identifies pathogenic variants of VPS13B in a patient with familial 16p11.2 duplicationa Family pedigree. b Sanger sequencing analysis of VPS13B variants. I) Proband and his mother are carriers of splicing mutation of c.1426-1G > A. II) Proband and his father are carriers of splicing mutation of c.4157 + 1G > T (sequences of reverse strands are shown)Back to article page