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'.
Nirmal Vadgama
10.24376/rd.sgul.5787888.v1
https://sgul.figshare.com/articles/dataset/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_/5787888
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.<br>
2018-01-19 09:40:59
exome sequence data
array data
intellectual disability
speech delay
TRAPPC6A
Genetics