1 research outputs found
Additional file 2: of Identification of mutations in the PI3K-AKT-mTOR signalling pathway in patients with macrocephaly and developmental delay and/or autism
Bi-allelic PTEN mutations in patient 3. The file consists of WES reads and clonal sequencing data to show that patient 3 has two mutations in different PTEN alleles. (DOCX 936 kb