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

Fig. 2.

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Fig. 2. Sanger sequencing confirmed the heterozygous GCH1 missense variant (c.539A>C, p.Gln180Pro) in the patient (II-1).
Journal of Genetic Medicine 2020;17:34-8 https://doi.org/10.5734/JGM.2020.17.1.34
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