Associated Papers
Further Delineation of the TRAPPC6B Disorder: Report on a New Family and Review.
Nair P et al.
Journal of Pediatric Genetics, 2019
TRAPPopathies: An emerging set of disorders linked to variations in the genes encoding transport protein particle (TRAPP)-associated proteins.
Sacher M et al.
Traffic (copenhagen, Denmark), 2019
A homozygous founder mutation in TRAPPC6B associates with a neurodevelopmental disorder characterised by microcephaly, epilepsy and autistic features.
Marin-Valencia I et al.
Journal of Medical Genetics, 2018
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