Fig. 3
From: Smith-Kingsmore syndrome with nystagmus as the initial symptom
Whole-exome sequencing of MTOR. a Sanger sequencing of the proband-forward sequencing; (b) Sanger sequencing of the proband-reverse sequencing; (c) sequencing of mother-wild-type; (d) sequencing of father-wild-type; (e) next-generation sequencing revealed chr1:11217230 Exon30 NM 004958 4c.4448G>A (pCys1483Tyr) mutation in MTOR. The bottom sequence is the genome hg19 reference sequence; the variant site is displayed between the black dotted lines