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1.
Günthner, R.* et al.: Identification of co-occurrence in a patient with Dent's disease and ADA2-deficiency by exome sequencing. Gene 649, 23-26 (2018)
2.
Wagner, M. et al.: Biallelic mutations in SLC1A2; an additional mode of inheritance for SLC1A2-related epilepsy. Neuropediatrics 49, 59-62 (2018)