Novel loss-of-function mutation in HERC2 is associated with severe developmental delay and paediatric lethality
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DOI: 10.1136/jmedgenet-2020-106873
Abstract: Background The HERC2 gene encodes a 527 kDa E3 ubiquitin protein ligase that has key roles in cell cycle regulation, spindle formation during mitosis, mitochondrial functions and DNA damage responses. It has essential roles during embryonic… read more here.
Keywords: herc2 associated; herc2; function; paediatric lethality ... See more keywords