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The NIH Undiagnosed Diseases Program and Network: Applications to modern medicine.
Mol Genet Metab. 2016 Apr;117(4):393-400. doi: 10.1016/j.ymgme.2016.01.007. Epub 2016 Jan 22.
Mol Genet Metab. 2016.
PMID: 26846157
Free PMC article.
Biallelic mutations in mitochondrial tryptophanyl-tRNA synthetase cause Levodopa-responsive infantile-onset Parkinsonism.
Burke EA, Frucht SJ, Thompson K, Wolfe LA, Yokoyama T, Bertoni M, Huang Y, Sincan M, Adams DR, Taylor RW, Gahl WA, Toro C, Malicdan MCV.
Burke EA, et al.
Clin Genet. 2018 Mar;93(3):712-718. doi: 10.1111/cge.13172. Epub 2018 Feb 5.
Clin Genet. 2018.
PMID: 29120065
Free PMC article.
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