Atsuko Imai-Okazaki
0000-0002-7517-2881
3 papers found
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Impact of measuring heteroplasmy of a pathogenic mitochondrial DNA variant at the single‐cell level in individuals with mitochondrial disease
A novel homozygous variant in MICOS13/QIL1 causes hepato‐encephalopathy with mitochondrial DNA depletion syndrome
HDR-del: A tool based on Hamming distance for prioritizing pathogenic chromosomal deletions in exome sequencing
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