Data supporting: 'A tyrosinse-to-asparagine mutation in TRAPPC6A leads to build-up of the protein and results in a novel syndrome with intellectual disability, speech delay and dysmorphic features'.

2018-01-19T09:40:59Z (GMT) by Nirmal Vadgama
TRAPPC6A is associated with a novel phenotype and joins a growing list of proteins belonging to the TRAPP complex implicated in clinical syndromes with neurodevelopmental features.