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A de novo hexokinase 1 (HK1) variant presenting as Boucher–..:

Peretz, Ryan H. ; Zein, Wadih M. ; Hufnagel, Robert B....
American Journal of Medical Genetics Part A.  191 (2022)  2 - p. 624-629 , 2022
Link: https://doi.org/10.1002/ajmg.a.63045