TRAPPC2L-related disorder: first homozygous protein-truncating variant and further delineation of the phenotype
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DOI: 10.1136/jmg-2022-108677
Abstract: The TRAPP (TRAfficking Protein Particle) complexes are evolutionarily conserved tethering factors involved in the intracellular transport of vesicles for secretion and autophagy processes. Pathogenic variants in 8 genes (of 14) encoding TRAPP proteins are involved… read more here.
Keywords: related disorder; truncating variant; protein truncating; trappc2l related ... See more keywords