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