3 results found
https://gene.sfari.org/database/human-gene/CHD8

….Gln177Ter stop_gained De novo 35982159 Zhou X et al. (2022) c.2226+2T>C splice_site_variant Unknown 33004838 Wang T et al. (2020) c.2486+1G>A splice_site_variant De novo 33004838 Wang T et al. (2020) c.2730+1G>A splice_site_variant Unknown 33004838 Wang T et al. (2020) c.3307+1G…