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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'.
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.
History
Research Institute
- Institute of Medical and Biomedical Education
Value
- normal
AccessType
- open
