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

Author(s): Rawlins LE; Almousa H; Khan S; Collins SC; Milev MP; Leslie J; Saint-Dic D; Khan V; Hincapie AM; Day JO; McGavin L; Rowley C; Harlalka GV; V ...

The highly evolutionarily conserved transport protein particle (TRAPP) complexes (TRAPP II and III) perform fundamental roles in subcellular trafficking pathways. Here we identified biallelic seque ...

Article GUID: 35298461


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