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Okur, V. et al. De novo variants in HK1 associated with neurodevelopmental abnormalities and visual impairment. Eur J Hum Genet 27, 1081-1089 (2019).
Okur, V. et al. Homozygous noncanonical splice variant in in two siblings with multiple congenital anomalies and global developmental delay. Cold Spring Harb Mol Case Stud 5, (2019).