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American Journal of Human Genetics|July 9, 2013
Recessive TRAPPC11 mutations cause a disease spectrum of limb girdle muscular dystrophy and myopathy with movement disorder and intellectual disabilityNina Bögershausen, Nassim Shahrzad, Jessica X Chong, et al.Journal of Medical Genetics|April 20, 2021
Data sharing to improve concordance in variant interpretation across laboratories: results from the Canadian Open Genetics RepositoryChloe Mighton, Amanda C Smith, Justin Mayers, et al.The Journal of Clinical Investigation|February 7, 2017
Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiencySvjetlana Lovric, Sara Goncalves, Heon Yung Gee, et al.Pageof 4