Fig. 3. A pathogenic variant c.7682C>G (p.Ser2561Ter) in NF1 was identified as heterozygotes in the patient and his mother, which is causative for NF1. NF1, neurofibromatosis type 1.

Journal of Genetic Medicine 2022;19:94-9 https://doi.org/10.5734/JGM.2022.19.2.94

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