Lea Klepač, Klara Miljanić, D. Ramadža, I. Barić, T. Žigman, Alisa Fejzić, Hana Franić, A. Barišić, I. Karas
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引用次数: 0
Abstract
variant c.820_821delTGinsGA (p.Trp274Glu) in the SLC22A5 gene, predicted to be damaging but unreported earlier, thus classified as a variant of unknown significance. OCTN2 activity in fibroblasts was 25% of the control value. The treatment and patient monitoring plan were adjusted accordingly.
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