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. 2024 Mar 11;15:1331066. doi: 10.3389/fgene.2024.1331066

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Copyright © 2024 Karamysheva, Lebedev, Minaycheva, Nazarenko, Kashevarova, Fedotov, Skryabin, Lopatkina, Cheremnykh, Fonova, Nikitina, Sazhenova, Skleimova, Kolesnikov, Drozdov, Yakovleva, Seitova, Orishchenko and Rubtsov.

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qPCR-validation of mosaicism level for sSMC(12) in a patient with PKS. Footnote. C–control DNA with normal karyotype (Agilent Technologies, United States); PC–positive control–DNA of a patient with dup12p13.31; PC mos–DNA of a patient with dup12p13.31 mixed with control DNA in a 1:1 ratio to model 50% mosaicism at the locus of interest; Patient - DNA of analyzed patient.