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Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability.
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Characterization of three TRAPPC11 variants suggests a critical role for the extreme carboxy terminus of the protein.
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Bi-allelic mutations in TRAPPC2L result in a neurodevelopmental disorder and have an impact on RAB11 in fibroblasts.
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TRAPPC11 and GOSR2 mutations associate with hypoglycosylation of α-dystroglycan and muscular dystrophy.
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