Further insights into the spectrum phenotype of TRAPPC9 and CDK5RAP2 genes, segregating independently in a large Tunisian family with intellectual disability and microcephaly.
Sign Up to like & getrecommendations! Published in 2021 at "European journal of medical genetics"
DOI: 10.1016/j.ejmg.2021.104373
Abstract: Intellectual disability (ID) often co-occurs with other neurologic phenotypes making molecular diagnosis more challenging particularly in consanguineous populations with the co-segregation of more than one ID-related gene in some cases. In this study, we investigated… read more here.
Keywords: microcephaly; intellectual disability; trappc9; large tunisian ... See more keywords
TRAPPC9: Novel insights into its trafficking and signaling pathways in health and disease (Review).
Sign Up to like & getrecommendations! Published in 2018 at "International journal of molecular medicine"
DOI: 10.3892/ijmm.2018.3889
Abstract: Trafficking protein particle complex 9 (TRAPPC9) is a protein subunit of the transport protein particle II (TRAPPII), which has been reported to be important in the trafficking of cargo from the endoplasmic reticulum (ER) to… read more here.
Keywords: trappc9 novel; trappc9; golgi; novel insights ... See more keywords