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A missense mutation in TRAPPC6A leads to build-up of the pr..:

Mohamoud, Hussein Sheikh ; Ahmed, Saleem ; Jelani, Musharraf...
Mohamoud , H S , Ahmed , S , Jelani , M , Alrayes , N , Childs , K , Vadgama , N , Almramhi , M M , Al-Aama , J Y , Goodbourn , S & Nasir , J 2018 , ' A missense mutation in TRAPPC6A leads to build-up of the protein, in patients with a neurodevelopmental syndrome and dysmorphic features ' , Scientific Reports , vol. 8 , no. 1 , 2053 (2018) , pp. 1-9 . https://doi.org/10.1038/s41598-018-20658-w.  , 2018