A de novo nonsense mutation ...
A de novo nonsense mutation in ASXL3 shared by siblings with Bainbridge-Ropers syndrome. (note: for some reason it takes time to load the article, just be patient) https://drive.google.com/file/d/1D5NccL3qW2SpB6QhYdTLWXzhxWSCyhWk/view?usp=sharing (note: here you can find pdf file of "Whole exome sequencing diagnoses the first fetal case of Bainbridge-Ropers syndrome presenting as pontocerebellar hypoplasia type 1")