Figure 1From: Intellectual disability associated with a homozygous missense mutation in THOC6Mutation of THOC6 , identified in the patients with intellectual disability. A. Sanger sequencing indicating the mutation c.136G>A (RefSeq NM_024339.3) as homozygous in the patient and heterozygous in the parent. B. Conservation of the glycine residue (red boxed) at the site of the glycine to arginine substitution in the patients.Back to article page