Associated Papers
Collaborative evaluation study on 18 candidate diseases for newborn screening in 1.77 million samples.
Maier EM et al.
Journal of Inherited Metabolic Disease, 2023
Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency: urinary organic acid profiles and expanded spectrum of mutations.
Pitt JJ et al.
Journal of Inherited Metabolic Disease, 2015
MBASED: allele-specific expression detection in cancer tissues and cell lines.
Mayba O et al.
Genome Biology, 2014
25315065 (PubMed )
Supplement: 13059_2014_405_MOESM3_ESM.xlsx › FunctionalSomaticMutations
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