A missense mutation in TRAPPC6A leads to build-up of the protein, in patients with a neurodevelopmental syndrome and dysmorphic features
TRAPPC6A 的错义突变导致患有神经发育综合征和畸形特征的患者体内蛋白质积聚
期刊:Scientific Reports
影响因子:3.8
doi:10.1038/s41598-018-20658-w
Hussein Sheikh Mohamoud, Saleem Ahmed, Musharraf Jelani, Nuha Alrayes, Kay Childs, Nirmal Vadgama, Mona Mohammad Almramhi, Jumana Yousuf Al-Aama, Steve Goodbourn, Jamal Nasir