Heterozygous De Novo UBTF Gain-of-Function Variant Is Associated with Neurodegeneration in Childhood.
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Edvardson S, et al. Among authors: prasad an, prasad c.
Am J Hum Genet. 2017 Aug 3;101(2):267-273. doi: 10.1016/j.ajhg.2017.07.002.
Am J Hum Genet. 2017.
PMID: 28777933
Free PMC article.