Variable modifications included TMT6plex [K], oxidation [M], carbamyl [K], methyl [DE], deamidation [NQ], and acetyl [N-term]. The carbamyl and methyl modifications were included due to their high incidence afte
While data such as the finding of a CNV null allele reported here support a LoF in GREB1L as a driver of phenotypic manifestation, the description of incomplete penetrance and variable expressivity for GREB1L disease-associated alleles suggest that a haploinsufficiency model with AD inheritance does...