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Nature Communications, ISSN 2041-1723, 06/2017, Volume 8, Issue 1, p. 15824
Across a variety of Mendelian disorders, similar to 50-75% of patients do not receive a genetic diagnosis by exome sequencing indicating disease-causing... 
PERRAULT SYNDROME | COMPLEX | SNP | METABOLISM | RANDOM MONOALLELIC EXPRESSION | ORNITHINE | MULTIDISCIPLINARY SCIENCES | DOMINANT | MUTATIONS | ASSOCIATION | TOOL
Journal Article
Journal Article
Journal of Inherited Metabolic Disease, ISSN 0141-8955, 01/2020, Volume 43, Issue 1, pp. 25 - 35
Journal Article
Journal Article
Journal Article
Methods in Molecular Biology, ISSN 1064-3745, 2017, Volume 1567, pp. 379 - 390
Transcription of the mitochondrial genome yields three large polycistronic transcripts that undergo multiple endonucleolytic processing steps, before resulting... 
MtDNA | RNase P | RNase Z | ELAC2 | Mitochondrial RNA Processing | RNAseq | MRPP2 | QRT-PCR | Sequence Analysis, RNA - methods | RNA Processing, Post-Transcriptional | Humans | Real-Time Polymerase Chain Reaction - methods | Statistics as Topic | Genome, Mitochondrial | Organ Specificity | Gene Order | RNA - genetics | RNA - metabolism
Journal Article
Human Mutation, ISSN 1059-7794, 11/2013, Volume 34, Issue 11, pp. 1501 - 1509
Journal Article
JOURNAL OF CLINICAL INVESTIGATION, ISSN 0021-9738, 01/2020, Volume 130, Issue 1, pp. 108 - 125
Journal Article
Human Mutation, ISSN 1059-7794, 2017, Volume 38, Issue 12, pp. 1786 - 1795
Journal Article