De novo variants in HK1 associated with neurodevelopmental abnormalities and visual impairment

Volkan Okur, Megan T. Cho, Richard van Wijk, Brigitte van Oirschot, Jonathan Picker, Stephanie A. Coury, Dorothy Grange, Linda Manwaring, Ian Krantz, Colleen Clark Muraresku, Peter J. Hulick, Holley May, Eric Pierce, Emily Place, Kinga Bujakowska, Aida Telegrafi, Ganka Douglas, Kristin G. Monaghan, Amber Begtrup, Ashley WilsonKyle Retterer, Kwame Anyane-Yeboa, Wendy K. Chung

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Biochemistry, Genetics and Molecular Biology