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

Fig. 1.

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Fig. 1.

(A) Pedigree of the patient’s family. Asterisks indicate the sampled subjects. (B) Sanger sequencing confirmed the heterozygous MTOR variant c.5395G>A p.(Glu1799Lys) in the patient (III-1) and the wild-type genotype in unaffected family members (II-3, II-4, and III-2).

Journal of Genetic Medicine 2019;16:27-30 https://doi.org/10.5734/JGM.2019.16.1.27
© 2019 Korean Society of Medical Genetics and Genomics