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Heinen C, Jongejan A, Watson PJ, et al. A specific mutation in TBL1XR1 causes Pierpont syndrome. J Med Genet 2016;53:330–7 doi:10.1136/jmedgenet-2015-103233. In the results section of the abstract and the molecular analysis of the results section the mutation in TBL1XR1 was reported as c.1337A>C. The correct notation is c.1337A>G.
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