Study
Copy-choice recombination during mitochondrial L-strand synthesis causes DNA deletions
| Study ID | Alternative Stable ID | Type |
|---|---|---|
| EGAS00001003148 | Whole Genome Sequencing |
Study Description
NA
Study Datasets 1 dataset.
Click on a Dataset ID in the table below to learn more, and to find out who to contact about access to these data
| Dataset ID | Description | Technology | Samples |
|---|---|---|---|
| EGAD00001004271 |
The dataset comprises of seven samples described below
1. Muscle samples from three patients with late-onset PEO caused by compound heterozygous POLG variants
M0305 POLG W748S/R1096C
M1105 POLG A467T/T251I+P587L
M1804 POLG A467T/X1240G+35aa
2. Muscle sample from a patient with adPEO with heterozygous TWNK variants
M0230 TWNK p.Arg357Pro
3. Blood control samples from two patients with late-onset PEO caused by compound heterozygous POLG variants
DNA2012-1630_S1 POLG ... (Show More)
|
NextSeq 500 | 8 |
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