Articles with "variants trappc10" as a keyword



Biallelic variants in TRAPPC10 cause a microcephalic TRAPPopathy disorder in humans and mice

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Published in 2022 at "PLoS Genetics"

DOI: 10.1371/journal.pgen.1010114

Abstract: The highly evolutionarily conserved transport protein particle (TRAPP) complexes (TRAPP II and III) perform fundamental roles in subcellular trafficking pathways. Here we identified biallelic variants in TRAPPC10, a component of the TRAPP II complex, in… read more here.

Keywords: humans mice; trappc10; biallelic variants; variants trappc10 ... See more keywords