Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset Encephalopathy.
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Colin E, et al. Among authors: kaiser cs.
Am J Hum Genet. 2016 Sep 1;99(3):695-703. doi: 10.1016/j.ajhg.2016.06.030. Epub 2016 Aug 18.
Am J Hum Genet. 2016.
PMID: 27545681
Free PMC article.