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    Clinical and molecular characteristics of carnitineacylcarnitine translocase deficiency with c.270delC and a novel c.408C>A variant

    Clinical and molecular characteristics of carnitineacylcarnitine translocase deficiency with c.270delC and a novel c.408C>A variant by Berrak Bilginer Gürbüz, Didem Yücel Yılmaz, Rıza Köksal Özgül, Can Koşukcu, Ali Dursun, Hatice Serap Sivri, Turgay Coşkun, Ayşegül Tokatlı

    Published 2021-08-01
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