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

Fig. 2.

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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 https://doi.org/10.5734/JGM.2020.17.1.43
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