Journal of Genetic Medicine : eISSN 2383-8442 / pISSN 1226-1769

Fig. 2.

Download original image
Fig. 2. Sanger sequencing of the patient and his parents. Pedigree with results of Sanger sequencing of whole family. Sanger trace revealed A de novo missense variant of c.350G>A, p.Gly117Asp.
Journal of Genetic Medicine 2020;17:43-6
© 2020 Korean Society of Medical Genetics and Genomics