Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability.
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Anikster Y, et al. Among authors: guarani v.
Am J Hum Genet. 2017 Feb 2;100(2):257-266. doi: 10.1016/j.ajhg.2017.01.002. Epub 2017 Jan 26.
Am J Hum Genet. 2017.
PMID: 28132689
Free PMC article.