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PLoS Genetics, ISSN 1553-7390, 12/2017, Volume 13, Issue 12, p. e1007126
Journal Article
Journal Article
PLoS ONE, ISSN 1932-6203, 05/2014, Volume 9, Issue 5, p. e94882
Journal Article
Human Mutation, ISSN 1059-7794, 12/2019, Volume 40, Issue 12, pp. 2430 - 2443
The expanding use of exome sequencing (ES) in diagnosis generates a huge amount of data, including untargeted mitochondrial DNA (mtDNA) sequences. We developed... 
pipeline | mtDNA | ES data | bioinformatics | Leber's optic atrophy | Deafness | Phenotypes | Nucleotide sequence | Optic neuropathy | Genomes | Mitochondrial DNA | Neuropathy | Ataxia | Diagnosis | Bioinformatics | Deoxyribonucleic acid--DNA | DNA sequencing
Journal Article
Journal Article